For families

Words You May Hear

Plain-language guides to the medical, research, and treatment words you'll hear along the way. Tap any term across the site to open its guide.

504 planGeneral: A U.S. school plan under Section 504 of the Rehabilitation Act that provides accommodations (like elevator access, extra time, or rest breaks) for a student with a disability who doesn't need specialized instruction.

AAVTreatment: A type of harmless virus used to deliver gene therapy. Some children already have antibodies to AAV from past exposure, which can affect whether they qualify for certain gene therapies.
AmbulatoryCare: Ambulatory means a person can still walk independently. Non-ambulatory means a person primarily uses a wheelchair. Many trials are designed for one stage or the other.
AFOCare: A brace worn on the lower leg and foot — often at night — to help keep the ankle stretched and prevent contractures.
ACE inhibitorTreatment: Heart medicines (such as lisinopril or losartan) often started in childhood in Duchenne to protect the heart muscle, even before symptoms of heart weakness appear.
Airway clearanceCare: Techniques or devices that help loosen and move mucus out of the lungs. Used in Duchenne when cough strength is reduced.
Adrenal insufficiencyCare: A condition where the body can't make enough of its own stress hormone because of long-term steroid use. Children may need extra ('stress dose') steroids during illness, injury, or surgery.
AtalurenTreatment: A stop-codon readthrough medicine for nonsense-mutation Duchenne. It is available in the United Kingdom, but not approved in the United States; the European Union did not renew its conditional authorization in March 2025.
Accelerated approvalResearch: A faster FDA pathway for serious conditions where a treatment shows promise on a 'surrogate' marker. Companies must keep studying the treatment to confirm long-term benefit.
Action DuchenneGeneral: A UK Duchenne charity offering family support, education resources, and a national patient registry.
Adverse eventResearch: Any health problem that happens to a participant during a clinical trial, whether or not it's caused by the study treatment. Tracking adverse events is how researchers monitor safety.
ArmResearch: One of the groups in a clinical trial. For example, a placebo-controlled trial has at least two arms: an active-treatment arm and a placebo arm.
ADLsDaily Life: The six basic self-care tasks — bathing, dressing, toileting, transferring, continence, and eating — used to measure independence and qualify for services.
AFODaily Life: Custom-fit braces — often worn at night — that hold the foot and ankle in position to prevent contractures.
Accessible vanDaily Life: A specially modified van — typically $50–90k — with ramp or lift, lowered floor, and tie-downs for safe wheelchair transport.
AACDaily Life: Tools — from picture boards to dedicated speech-generating devices and iPad apps — that supplement or replace speech.
ADARights & Law: The 1990 US civil rights law (with 2008 amendments) prohibiting disability discrimination in employment, public services, public accommodations, telecommunications, and transit.
ACAARights & Law: The US air travel disability law — strengthened in 2024–2025 with new wheelchair handling, return, and damage protections.
Accessible Canada ActRights & Law: Canada's federal disability framework — Accessible Canada Act (2019), provincial laws like AODA (Ontario), plus the Disability Tax Credit and RDSP savings plan.
ARBsTreatment: Heart medications (names usually ending in -sartan, such as losartan or valsartan) that protect the heart in a similar way to ACE inhibitors but without the cough side effect.
Aldosterone antagonistsTreatment: Heart medications (eplerenone and spironolactone) that block a hormone causing heart muscle scarring and fluid retention. Added to slow progression of cardiomyopathy in Duchenne.
AlbuterolTreatment: A fast-acting 'rescue' inhaler that opens up the airways. Used during wheezing or trouble breathing — often with a spacer.
Antibiotics for respiratory infectionTreatment: Prescription medications that treat bacterial infections. In Duchenne, used quickly and often more aggressively than for typical kids because colds can turn into pneumonia faster.
AcetaminophenCare: Over-the-counter pain and fever medicine generally considered the safer first choice for everyday pain in Duchenne.
Anesthesia in DuchenneCare: The medications and care plan used during surgery or sedation. In Duchenne, certain drugs must be avoided.
Accessible transportationDaily Life: A school bus or van with a wheelchair lift, tie-downs, and trained personnel — provided by the district when listed in the IEP.
Adaptive bedDaily Life: A hospital-style bed (or specialty mattress) that adjusts head and foot position, helps with repositioning, and reduces pressure on the skin.
Adaptive bathroom equipmentDaily Life: Roll-in showers, shower chairs (often tilt-in-space), raised toilets, bidets, and grab bars — the building blocks of an accessible bathroom.
Anticipatory griefDaily Life: Grief experienced before a loss — for the future, the milestones, the version of childhood you imagined. Common in any progressive condition.
Adulthood and independenceDaily Life: The active work of building an adult life — college, work, relationships, hobbies, travel — with Duchenne, not in spite of it.
Advance directivesRights & Law: Written documents — including a living will, healthcare proxy, and (for some families) a POLST/MOLST form — that record what kind of medical care your son wants if he can't speak for himself.
Adult neuromuscular careCare: Specialized care for adults living with neuromuscular conditions — provided by adult neurologists, often at academic medical centers or MDA care centers with adult programs.
ABLE accountRights & Law: A tax-advantaged savings account for people with disabilities, allowing savings without losing SSI or Medicaid eligibility.

Becker muscular dystrophyGeneral: A milder condition in the same family as Duchenne. People with Becker make some partially working dystrophin, so muscle weakness usually starts later and progresses more slowly.
Beta blockerTreatment: Heart medicines that slow the heart rate and reduce strain on the heart. Sometimes used alongside ACE inhibitors in Duchenne cardiac care.
BiPAPCare: A breathing support machine, usually worn through a mask at night, that helps the lungs get enough air. It's a common part of later-stage Duchenne care.
Bone densityCare: A measure of how strong the bones are. Steroids and reduced movement can weaken bones in Duchenne, so density is monitored and supported with vitamin D, calcium, and sometimes other medicines.
BisphosphonateTreatment: Medicines used to strengthen bones and reduce fracture risk in children whose bones have weakened from steroids or limited movement.
BiomarkerResearch: A measurable sign in the body — like a blood test, imaging finding, or muscle protein — used to track disease or response to treatment.
Blue BadgeGeneral: A UK parking permit for people with mobility difficulties that allows parking closer to destinations and in designated bays.
BaselineResearch: Measurements taken before a trial treatment starts. Researchers compare later results to baseline to see what changed.
Built-in voice controlDaily Life: Free OS-level voice control — Apple Voice Control, Windows Voice Access, Google Voice Access — that operates phones and computers hands-free.
BisoprololTreatment: A once-daily beta-blocker often used in Europe and increasingly in North America for steady cardiac protection.
Bereavement supportCare: Counseling, peer groups, and resources for families grieving the loss of a child — including before, during, and long after.
Base editingResearch: Precision gene editing that changes a single DNA letter at a time — useful for the small subset of Duchenne mutations caused by single-letter (point) changes.

Clinical trialResearch: A research study that tests whether a new treatment is safe and effective in people. Trials follow a strict protocol and have eligibility criteria.
CaregiverGeneral: A family member or other person who helps with a child's daily needs, medical care, school coordination, and appointments.
Cardiac and pulmonary careCare: Regular monitoring and treatment of the heart and lungs, since both can be affected in Duchenne. Includes echocardiograms, breathing tests, and medicines that protect heart and lung function.
CarrierGenetics: A person — usually a mother or sister — who carries a Duchenne gene change on one of their X chromosomes. Carriers can pass the change to their children, and some develop muscle or heart symptoms themselves.
CKCare: An enzyme released when muscle is damaged. Very high CK levels in a young child are often the first clue that leads to a Duchenne diagnosis.
Calf pseudohypertrophyCare: Calves that look unusually large because muscle has been replaced with fat and scar tissue. It's common in Duchenne and is not the same as muscle strength.
ContractureCare: Tightening and shortening of muscles or tendons that limits joint movement. Stretching, bracing, and physical therapy help reduce contractures over time.
CardiomyopathyCare: Weakening of the heart muscle. In Duchenne it's monitored with echocardiograms or cardiac MRI and often treated with heart-protective medicines starting in childhood.
Cardiac MRICare: A detailed scan of the heart that can detect early scarring and changes in the heart muscle, sometimes before they show up on an echocardiogram.
Cough assistCare: A device that helps move air in and out of the lungs to clear mucus when cough strength weakens. Often introduced before breathing problems become serious.
CasimersenTreatment: An exon-skipping therapy approved for boys whose mutation is amenable to skipping exon 45. Given as a weekly IV infusion.
CureDuchenneGeneral: A nonprofit focused on accelerating Duchenne research and providing care, education, and family support programs.
Care considerationsCare: International expert guidelines describing the standard of care for Duchenne — covering diagnosis, steroids, heart, lungs, bones, mental health, and more.
Carer's AllowanceGeneral: A UK benefit for someone who spends 35+ hours a week caring for a person with substantial care needs, such as a child with Duchenne.
ConsultantCare: In the UK, a senior hospital doctor who leads a specialty team — for example a consultant neurologist, cardiologist, or respiratory consultant managing your child's Duchenne care.
CrossoverResearch: A trial design where participants receive one treatment for a period and then switch to a different one, so they act as their own comparison group.
CohortResearch: A group of participants in a clinical trial who share a feature — for example, the same dose level or the same age range.
Carbon dioxide monitoringCare: A test that tracks how much carbon dioxide builds up in the blood, especially during sleep. High levels can mean the lungs aren't breathing deeply enough.
CardiologistCare: A heart specialist who monitors and treats heart muscle function, especially because the heart is also a muscle affected by Duchenne.
Care coordinatorCare: A nurse or clinic staff member who helps schedule appointments, explain next steps, and connect families with resources.
Cross-border travelRights & Law: The practical realities of international travel with Duchenne — air travel rules, medications, equipment, insurance, and the gaps even strong laws leave.
CarvedilolTreatment: A beta-blocker that also relaxes blood vessels — a 'two-in-one' for failing hearts. Usually taken twice a day with food.
CPAPCare: A nighttime breathing support machine that delivers one steady pressure through a mask. More common for sleep apnea than for DMD-related breathing weakness.
CalciumCare: A mineral essential for bone strength, muscle function, and nerve signaling. Found in dairy, leafy greens, fortified foods, and supplements.
Comfort care planCare: A written plan — built with your team — that lays out how the family wants pain, breathing, and end-of-life decisions handled.
CreatineTreatment: A naturally occurring compound that helps muscles store energy. Available over the counter; one of the most studied supplements in Duchenne.
CoQ10Treatment: A substance the body uses to make energy in cells. Sold as a soft-gel or chewable supplement.
CarnitineTreatment: A substance that helps the body turn fat into energy. Sold as a supplement; sometimes prescribed when blood levels are low.
Caregiver fatigueDaily Life: The physical, emotional, and mental exhaustion that comes from full-time caregiving — especially the kind that doesn't pause for nights, weekends, or your own illness.
Carrier cardiac screeningCare: Routine heart monitoring (echo and EKG, sometimes cardiac MRI) for female carriers of dystrophin mutations, regardless of symptoms.
Cascade testingGenetics: Genetic testing of family members to find out who else carries the dystrophin mutation after one person is identified.
CRISPRResearch: A precise genetic tool that can cut, delete, or change DNA at a specific location — being studied as a way to repair or skip the dystrophin mutation directly in muscle cells.
Copay assistanceRights & Law: Programs — usually run by drug manufacturers or independent foundations — that pay part or all of a patient's out-of-pocket cost for a specific medication.

Duchenne muscular dystrophyGeneral: A rare genetic condition that causes muscles to weaken over time, primarily affecting boys. It is caused by changes in the gene that makes dystrophin, a protein muscles need to stay strong.
DystrophinGenetics: A protein that helps protect muscle cells from damage during normal movement. In Duchenne, the body cannot make working dystrophin, so muscles gradually break down.
Disease stageCare: A way of describing how Duchenne is progressing — for example early, ambulatory, transitional, or non-ambulatory. Stage often guides care decisions and trial eligibility.
De novo mutationGenetics: A gene change that appears for the first time in a child and was not inherited from either parent. About a third of Duchenne cases are de novo.
DeletionGenetics: A type of dystrophin gene change where one or more sections (exons) are missing. Deletions are the most common cause of Duchenne.
DuplicationGenetics: A type of dystrophin gene change where a section of the gene is repeated. Duplications can disrupt how the dystrophin protein is made.
DeflazacortTreatment: A corticosteroid commonly used in Duchenne. Some families choose it over prednisone because of differences in side effects like weight gain.
Double-blindResearch: A trial design where neither the family nor the study team knows who is getting the active treatment. This reduces bias in the results.
DLAGeneral: A UK benefit for children under 16 with a disability or long-term condition that helps with extra care and mobility costs. Many Duchenne families apply for DLA after diagnosis.
Duchenne UKGeneral: A UK charity founded by Duchenne parents that funds research and supports families across the United Kingdom.
Dose escalationResearch: An early-trial design where small groups receive increasing doses of a treatment, one step at a time, to find a dose that works and is safe.
Durable Medical EquipmentCare: Equipment prescribed for medical use at home, such as cough-assist devices, BiPAP machines, suction equipment, or wheelchairs. A DME provider delivers and maintains the equipment.
DietitianCare: A nutrition specialist who helps manage weight, bone health, constipation, and steroid-related eating challenges.
DragonDaily Life: The long-running speech-to-text and voice-command software (now Microsoft/Nuance) used to control a computer entirely by voice.
DiureticsTreatment: Medications that help the body get rid of extra fluid through urination. Added when the heart starts to struggle with fluid overload.
DigoxinTreatment: An older heart medication that helps the heart pump more strongly and steadies certain rhythm problems. Used selectively today, with periodic blood level checks.
DNRRights & Law: A specific medical order stating that CPR and advanced resuscitation should not be performed if the heart stops or breathing fails.

Exon skippingTreatment: A treatment approach that helps cells 'skip over' a faulty section of the dystrophin gene so the body can still produce a partially working dystrophin protein. Current exon-skipping therapies are given as weekly IV infusions, but researchers are exploring ways to make treatments last longer and delivery methods that don't require infusions, such as subcutaneous injections. The science is not there yet to support these changes, but research continues.
Eligibility criteriaResearch: The requirements a person must meet to join a clinical trial — for example age, mutation type, walking ability, or prior treatments.
ExonGenetics: A section of a gene that codes for part of a protein. The dystrophin gene has 79 exons; many Duchenne treatments are designed for specific exon changes.
EchocardiogramCare: An ultrasound of the heart used to measure how well it's pumping. It's a routine part of Duchenne care.
Ejection fractionCare: A percentage that describes how much blood the heart's main pumping chamber squeezes out with each beat. In Duchenne, it's tracked to detect early heart muscle changes.
EplerenoneTreatment: A heart medication related to spironolactone that may help protect the heart muscle in Duchenne, often used alongside ACE inhibitors and beta-blockers.
EKGCare: A quick test that records the heart's electrical activity using small stickers on the chest. It checks rhythm and looks for early electrical changes in Duchenne.
ElevidysTreatment: An FDA-approved one-time gene therapy for ambulatory patients with Duchenne who are 4 years of age and older and have a confirmed DMD mutation. It delivers a shortened dystrophin (micro-dystrophin) using an AAV virus. The label sets no upper age limit, but it carries a boxed warning for serious liver injury and is not recommended for people with preexisting liver impairment. Older boys and young men should have a careful, individualized conversation with their neuromuscular and hepatology teams before pursuing treatment.
EteplirsenTreatment: An exon-skipping therapy approved for boys whose Duchenne mutation is amenable to skipping exon 51. Given as a weekly IV infusion.
Expanded accessResearch: A way for people who don't qualify for a clinical trial to receive an investigational treatment outside the trial, when no good alternatives exist.
EndpointResearch: What a clinical trial measures to decide if a treatment works — for example walk distance, NSAA score, or breathing function.
EMAResearch: The European Union's medicines regulator. Many Duchenne treatments are reviewed by the EMA for use across EU countries; the UK now has its own MHRA process.
EHC planGeneral: A legal document in England and Wales that sets out the education, health, and social care support a child or young person with special needs is entitled to — the UK equivalent of a U.S. IEP.
EdasalonexentTreatment: An investigational oral medicine that aimed to slow Duchenne progression by blocking NF-kB, a pathway that drives muscle inflammation and damage. Development was discontinued after a Phase 3 trial did not meet its main goal.
EndocrinologistCare: A hormone specialist who helps manage steroid side effects like growth delay, weight gain, and puberty changes.
Eye-gazeDaily Life: Camera-based systems (Tobii Dynavox, EyeTech, Irisbond) that let users control a computer or speech device entirely with eye movement.
Environmental controlDaily Life: Voice, switch, or eye-gaze control of lights, doors, locks, TV, thermostat, and phone — combining mainstream smart-home tools with disability bridges like Tecla and GEWA.
EU Accessibility ActRights & Law: The 2019 EU directive (enforcement starting June 2025) requiring accessibility in products and services across all EU member states.
EU Disability CardRights & Law: A mutual-recognition EU disability ID (rolling out 2024–2028) that lets a disability status from one member state be recognized in others for travel and services.
EnalaprilTreatment: An ACE inhibitor, usually taken twice a day, available as a tablet or liquid. Often chosen for younger children or families who prefer twice-daily dosing.
EntrestoTreatment: A newer combination heart medication (sacubitril/valsartan) used in advanced heart failure. Replaces — not added to — an ACE inhibitor or ARB.
Emergency cardCare: A printed wallet card listing your child's diagnosis, daily medications, allergies, drugs to avoid, and stress-dose instructions.
ER planCare: A written, family-and-team-approved plan for what to do — and what to ask for — in an emergency department visit.
EPSDTRights & Law: A federal Medicaid benefit that requires states to cover any medically necessary service for children under 21 enrolled in Medicaid.

FVCCare: A breathing test that measures the largest amount of air a person can forcefully exhale. It helps doctors track how the breathing muscles are working.
FDA approvalResearch: A decision by the U.S. Food and Drug Administration that a treatment is safe and effective enough to be prescribed. Different countries have their own approval processes (such as the EMA in Europe).
Fordadistrogene movaparvovecTreatment: An investigational AAV gene therapy that delivers a mini-dystrophin gene to muscle cells. Studied as another approach alongside Elevidys.
FibrosisCare: Scar tissue that gradually replaces healthy muscle in Duchenne, making muscles weaker and stiffer. Reducing fibrosis is a target of several investigational treatments.
FurosemideTreatment: The most common loop diuretic ('Lasix'). Works quickly and strongly to remove extra fluid during fluid overload or advanced cardiomyopathy.
Field tripsDaily Life: A scheduled school outing. With planning and accommodations, your son can join almost any of them.
Financial assistanceDaily Life: Grants, copay assistance, foundation aid, equipment funds, and travel support — designed to offset the enormous out-of-pocket costs of Duchenne.
FormularyRights & Law: The list of medications that an insurance plan covers — usually divided into tiers with different copays.

Gene therapyTreatment: A treatment that delivers a working copy (or shortened version) of a gene into the body's cells, often using a harmless virus, to help the body produce a missing protein like dystrophin.
Genetic reportGenetics: A document from a lab describing the specific change in a person's dystrophin gene. Many trials and treatments require a copy of this report to confirm eligibility.
Genetic counselingGenetics: A meeting with a specialist who explains genetic test results, what they mean for your child, and what they might mean for siblings, parents, and future pregnancies.
Gowers signCare: A way of standing up from the floor by 'walking' the hands up the legs. It's a classic early sign of Duchenne and reflects weakness in the hip and thigh muscles.
GolodirsenTreatment: An exon-skipping therapy approved for boys whose mutation is amenable to skipping exon 53. Given as a weekly IV infusion.
GivinostatTreatment: A non-mutation-specific Duchenne medicine (an HDAC inhibitor) approved to slow muscle damage. It can be used regardless of the specific dystrophin gene change.
GPCare: A general practitioner — a UK family doctor who is usually the first point of contact for everyday health concerns and referrals to specialist Duchenne services.
Genetic counselorCare: A trained professional who helps families understand genetic test results, inheritance, and family planning options.
Gait trainerDaily Life: A supported walking device that helps younger children continue weight-bearing and stepping as independent walking becomes harder.
GlycopyrrolateTreatment: A medication that reduces saliva and airway secretions. Used as swallowing muscles weaken to keep secretions manageable.
GabapentinCare: A medication originally for seizures, now widely used for nerve-related pain, restless legs, and sleep discomfort.
GlutamineTreatment: An amino acid the body uses for muscle repair and immune function. Available as a powder.
GINARights & Law: The U.S. Genetic Information Nondiscrimination Act — a federal law preventing health insurers and employers from using a person's genetic information against them.
G-tubeCare: A feeding tube placed directly through the abdominal wall into the stomach, used when eating by mouth becomes unsafe, exhausting, or insufficient.
Goals-of-care conversationCare: A structured conversation about what matters most to your family, your son, and what kind of life you are working toward.
GuardianshipRights & Law: Two different legal approaches for adults who need help with decisions. Guardianship transfers legal authority; supported decision-making keeps it with the young adult and adds formal helpers.

Hoyer liftDaily Life: A mechanical lift — floor-based or ceiling-mounted — that transfers a person between bed, chair, toilet, and bath safely without lifting strain.
Hospital bedDaily Life: An electric, adjustable bed with positioning controls used for breathing, pressure relief, and easier transfers.
Home modificationsDaily Life: Structural changes to the home — ramps, roll-in showers, widened doorways, lowered counters — that create independent access.
HydrocortisoneCare: A short-acting corticosteroid used as the stress-dose steroid (oral or injection) for adrenal insufficiency, rather than as a daily DMD treatment.
HospiceCare: A specialized form of end-of-life care focused entirely on comfort, dignity, and family support — usually in the home — when curative treatment is no longer the goal.

Informed consentResearch: The process of learning all the key facts about a clinical trial — including risks and benefits — before agreeing to take part.
IRBResearch: A group that reviews clinical trials to make sure participants are protected and informed. Every trial site must have IRB approval.
IEPGeneral: Individualized Education Program — a U.S. school plan that provides specialized instruction and services for a student with a disability whose learning is affected.
IPResearch: Investigational product — the treatment being tested in a clinical trial (a drug, gene therapy, or device). It may be active medicine or, in some study arms, a placebo.
IADLsDaily Life: The 'next layer' of independence skills — cooking, managing money, medications, transportation, phone use, and housework — that matter for adult living and waiver eligibility.
IDEARights & Law: The federal special education law guaranteeing free appropriate public education (FAPE) to children with disabilities — the basis for IEPs, related services, and transition planning.
International disability frameworksRights & Law: Major national disability laws beyond the US/UK/EU/Canada/Australia — Japan, India (RPwD 2016), Brazil (LBI 2015), South Africa, and others — each with distinct protections.
IvabradineTreatment: A heart medication that slows the heart rate without lowering blood pressure — a different mechanism from beta-blockers. Used as a fine-tuning option.
Inhaled corticosteroidsTreatment: Daily preventive inhalers (such as fluticasone or budesonide) that reduce airway inflammation. Different from the steroid pill — these stay in the lungs.
Influenza vaccineCare: The annual flu shot. For kids on daily steroids, the inactivated injection (not the nasal spray) is required because live vaccines aren't safe.
IbuprofenCare: An NSAID (non-steroidal anti-inflammatory) effective for inflammation, pain, and fever. Some teams limit its use in kids on daily steroids.
Insurance appealsRights & Law: The formal process of challenging an insurance denial — starting with an internal appeal to the insurer, then an external appeal if needed.

KAFODaily Life: Full-leg braces that lock the knees straight to extend assisted standing and walking, typically considered late in the ambulatory stage.

Learning and behaviorCare: Duchenne can be associated with a higher chance of learning differences, ADHD, autism spectrum traits, anxiety, or OCD. Screening and support are part of comprehensive care.
Long-term follow-upResearch: Continued monitoring of trial participants for years after the main study ends, especially important for gene therapies, to watch for late benefits or safety signals.
LisinoprilTreatment: A specific ACE inhibitor — one of the most commonly prescribed in Duchenne because it's well-studied, taken once a day, and available as a liquid for kids who can't swallow pills.
LosartanTreatment: The most commonly prescribed ARB in pediatrics. Taken once a day, available as a tablet or compounded liquid. Often the first switch when an ACE inhibitor causes a cough.
Long-term services and supportsRights & Law: The umbrella term for the daily help adults with disabilities may need — personal care attendants, home health aides, day programs, supported living, and respite — funded primarily through state Medicaid waivers.
Lipid nanoparticlesResearch: Tiny fatty bubbles used to deliver genetic material into cells — being studied as an alternative to AAV for delivering gene editing tools to muscle.

MutationGenetics: A change in the DNA sequence of a gene. Different Duchenne mutations affect which treatments and clinical trials a child may be eligible for.
Mutation-specific therapiesTreatment: Treatments that only work for children with certain dystrophin gene changes. Examples include exon-skipping drugs and stop-codon readthrough medicines.
Muscle biopsyCare: A small sample of muscle taken to look for dystrophin and other proteins. Genetic testing has largely replaced biopsy for Duchenne diagnosis but it's still used in some cases.
Micro-dystrophinTreatment: A shortened, engineered version of the dystrophin protein that's small enough to fit inside an AAV gene therapy. It doesn't fully replace dystrophin but can provide some protection.
MDAGeneral: A long-running U.S. nonprofit that funds research and supports families living with muscular dystrophies, including Duchenne.
Multidisciplinary clinicCare: A clinic where a child sees several Duchenne specialists in one visit — often neurology, cardiology, pulmonology, PT, and more.
MHRAResearch: The UK's medicines regulator — the British equivalent of the FDA. The MHRA decides whether a new Duchenne treatment is safe and effective enough to be licensed in the UK.
MotabilityGeneral: A UK scheme that lets people receiving the higher-rate mobility part of DLA or PIP lease an accessible car, scooter, or powered wheelchair.
Muscular Dystrophy UKGeneral: The UK's leading charity for people with muscle-wasting conditions, including Duchenne. Offers information, advocacy, family support, and a network of regional care advisors.
MyostatinTreatment: A natural protein that limits muscle growth. Several investigational Duchenne treatments aim to block myostatin so muscles can build more mass.
Medicaid WaiverDaily Life: Special Medicaid programs that let children with disabilities qualify based on the child's income (not the family's), funding home care, equipment, therapies, and respite.
Manual wheelchairDaily Life: A non-motorized wheelchair, often used as a transitional or backup device — but rarely sufficient as a primary chair in Duchenne.
Mobility scooterDaily Life: A tiller-steered mobility device that most Duchenne clinicians steer families away from in favor of properly fitted power wheelchairs.
Mobile arm supportDaily Life: Wheelchair-mounted arm supports (WREX, JAECO, Armon Edero/Ayura) that offset gravity and restore self-feeding, device use, and gesture.
MetoprololTreatment: A beta-blocker available in short-acting (twice daily) and long-acting (once daily) forms. Sometimes chosen instead of carvedilol when blood pressure is on the lower side.
Mucus clearanceCare: Techniques and devices (chest physiotherapy, vibrating vests, cough assist) that help loosen and move secretions out of the lungs to prevent pneumonia.
MagnesiumCare: A mineral involved in muscle function, nerve signaling, and bone health. Sometimes recommended for cramps, constipation, or sleep.
Malignant hyperthermiaCare: A rare but life-threatening reaction to certain anesthetic drugs that causes a dangerous rise in body temperature and muscle breakdown.
Medical alert braceletCare: A worn ID engraved with critical information so first responders know about Duchenne and which drugs to avoid.
Modified PEDaily Life: A physical education plan adjusted to your son's abilities — replacing activities that risk overexertion with safer movement, usually written into the IEP or 504.
Medicare eligibility (under 65)Rights & Law: Medicare opens to younger adults who have received SSDI (Social Security Disability Insurance) for at least 24 months, regardless of age.
MedicaidRights & Law: A state and federal health coverage program for people with limited income and resources. Unlike Medicare, Medicaid has no age requirement and is based on financial need and disability status.
Manifesting carrierGenetics: A female carrier of a dystrophin mutation who shows some symptoms herself — most often muscle weakness, fatigue, or heart involvement.
MRI fat fractionResearch: A specific MRI measurement that quantifies how much muscle has been replaced by fat — a sensitive marker of Duchenne progression.

NSAAResearch: The North Star Ambulatory Assessment — a 17-item test clinicians use to track motor function over time in boys with Duchenne who can still walk.
Nutrition supportCare: Guidance from a dietitian to manage weight, bone health, and side effects of steroids, and to make sure children get the calories, protein, calcium, and vitamin D they need.
Nonsense mutationGenetics: A point mutation that creates an early 'stop' signal, telling the cell to stop making dystrophin too soon. About 10–15% of Duchenne cases are caused by nonsense mutations.
Newborn screeningGenetics: Routine blood tests done shortly after birth that can flag conditions early. A few states and countries are beginning to include Duchenne in newborn screening.
Natural history studyResearch: A study that follows people with a condition over time without giving an experimental treatment, to understand how the condition usually progresses.
NHSGeneral: The United Kingdom's publicly funded health service. Most Duchenne care in the UK — including neuromuscular clinics, physiotherapy, and approved medicines — is delivered through the NHS.
NICETreatment: The UK body that decides which treatments the NHS will fund in England. NICE reviews evidence on benefit and cost before approving a Duchenne medicine for routine NHS use.
North Star NetworkCare: A UK-wide network of NHS neuromuscular clinics that follows children with Duchenne using shared assessments (like the NSAA) and contributes to a national database.
Neuromuscular specialistCare: A neurologist with advanced training in diseases that affect muscles and the nerves that control them. In Duchenne, this specialist is the central coordinator of the care team.
NeurologistCare: A doctor who diagnoses and manages conditions of the nervous system, including the brain, spinal cord, and nerves that control muscles.
NDISRights & Law: Australia's national disability funding scheme — combined with the 1992 DDA — funds equipment, therapy, and support workers under a 'reasonable and necessary' standard.
NebulizerCare: A small machine that turns liquid medicine into a fine mist breathed in through a mask or mouthpiece. Useful during colds when an inhaler isn't enough.
Nissen fundoplicationCare: A surgical procedure that wraps the top of the stomach around the lower esophagus to prevent severe reflux, sometimes done at the same time as G-tube placement.
Next-generation AAV capsidsResearch: Newly engineered versions of the viral shell used to deliver gene therapy — designed to target muscle more efficiently and reduce side effects.

Open-label extensionResearch: A continuation of a clinical trial where everyone, including those who got placebo, can receive the active treatment so researchers can track long-term effects.
Overnight oxygen monitoringCare: A test that tracks oxygen levels in the blood during sleep, often with a small finger sensor, to see if nighttime breathing support is needed.
Occupational therapistCare: A specialist who helps children develop skills for everyday activities like dressing, eating, writing, using electronics, and self-care.
OrthopedistCare: A bone and joint specialist who helps manage contractures, scoliosis, fractures, and other orthopedic concerns in Duchenne.
OrthotistCare: A specialist who designs and fits braces, splints, and other orthotic devices to support joints and movement.

PlaceboResearch: A treatment with no active medicine used in some clinical trials. Comparing a new treatment to a placebo helps researchers know if the treatment really works.
ProtocolResearch: The detailed plan for a clinical trial — what's measured, how often visits happen, what doses are used, and what the safety rules are.
Patient registryResearch: A database that collects health information from people with a specific condition. Registries help researchers find participants and learn how the condition changes over time.
Physical therapyCare: Stretching, exercise, and bracing programs led by a therapist to keep joints flexible, protect muscles, and support mobility for as long as possible.
Point mutationGenetics: A single-letter change in the DNA. In Duchenne, point mutations include nonsense mutations, splice-site changes, and small insertions or deletions.
Power wheelchairCare: A motorized wheelchair that supports independence as walking becomes harder. Many families start with a manual chair or scooter for distances before transitioning.
Pulmonary function testCare: Breathing tests, including FVC, that track how well the lungs and breathing muscles are working. Done regularly as children get older.
PrednisoneTreatment: A widely used corticosteroid in Duchenne care. It's effective and inexpensive, but can have side effects like weight gain, mood changes, and slowed growth.
Phase 1Research: An early clinical trial focused on safety and dosing in a small number of participants.
Phase 2Research: A clinical trial that looks at how well a treatment works and continues to track safety in a larger group.
Phase 3Research: A larger clinical trial comparing a treatment to a standard or placebo, often the final step before seeking approval.
PPMDGeneral: A leading U.S. Duchenne nonprofit founded by parents. It funds research, advocates with the FDA, and offers extensive resources for families.
PROResearch: Patient-reported outcome — information reported directly by the patient or caregiver, like fatigue, pain, or daily activities, without a clinician interpreting it. PROs are increasingly used as endpoints in Duchenne trials.
PIPGeneral: A UK benefit for adults aged 16+ that helps with the extra costs of a long-term health condition or disability. It usually replaces DLA when a young person turns 16.
PaediatricianCare: British spelling of pediatrician — a doctor who specializes in the medical care of children, including those with Duchenne.
PamrevlumabTreatment: An investigational antibody that blocks connective tissue growth factor (CTGF) to try to slow muscle scarring (fibrosis) in Duchenne. Studied in both ambulatory and non-ambulatory boys.
Primary outcomeResearch: The single most important thing a clinical trial is designed to measure — for example walking distance, NSAA score, or muscle function. It is set in advance and used to judge whether the treatment works.
PharmacokineticsResearch: How a medicine moves through the body — how it's absorbed, where it goes, how it's broken down, and how it leaves. Early Duchenne trials often measure pharmacokinetics to set the right dose.
PharmacodynamicsResearch: What a medicine does to the body — for example whether it produces more dystrophin or changes a lab marker. Often measured alongside pharmacokinetics.
PulmonologistCare: A doctor who specializes in lung health and breathing. In Duchenne, pulmonologists monitor respiratory function and help protect breathing muscles over time.
Peak cough flowCare: A measurement of how forcefully a person can cough. It helps the care team assess how well the airway can be cleared and whether cough-assist support may be helpful.
Physical therapistCare: A movement specialist who helps children keep their muscles and joints as strong and flexible as possible through stretching, exercise, and bracing programs.
PsychologistCare: A mental health professional who helps children and families cope with the emotional side of Duchenne.
PM&RCare: Physical medicine and rehabilitation doctors specialize in function, mobility, equipment, and long-term disability management.
Palliative careCare: A team focused on quality of life, symptom relief, and family support at any stage of a serious illness.
PCADaily Life: Paid in-home support workers who help with ADLs and daily tasks; consumer-directed programs let families hire, train, and sometimes pay relatives as the aide.
Power wheelchairDaily Life: A motorized wheelchair with custom seating, drive controls, and power features (tilt, recline, elevate, stand) prescribed for full-time mobility.
Power standing wheelchairDaily Life: A wheelchair that raises the user from sitting to a fully supported standing position, with bone, circulation, and digestive benefits.
PerindoprilTreatment: A long-acting, once-daily ACE inhibitor studied specifically in Duchenne in a landmark French trial that showed cardiac benefit when started early.
Pneumococcal vaccineCare: A vaccine protecting against the bacteria that cause most bacterial pneumonia. Children with Duchenne follow a different ('high-risk') schedule than the standard one.
PamidronateTreatment: A bisphosphonate given as an IV infusion over a few days every few months to strengthen bones.
PotassiumCare: A mineral essential for heart and muscle function. Most kids get enough from food; supplements only when bloodwork shows low levels.
Parent mental healthDaily Life: Anxiety, grief, depression, and post-traumatic stress are all more common in DMD parents than in the general population.
Peer supportDaily Life: Connection with other parents living the same diagnosis — through groups, conferences, online forums, or one-on-one matches.
Port placementCare: A small device implanted under the skin connected to a catheter in a large vein — providing reliable IV access for infusions, lab draws, and emergency medications.
Pre-op clearanceCare: The pre-surgical evaluation by cardiology, pulmonology, and anesthesia to confirm safety for surgery — and to make a specific plan for anesthesia and recovery.
POLSTRights & Law: A medical order signed by a clinician and your family, specifying what interventions your son wants in an emergency (CPR, intubation, hospitalization, antibiotics, feeding tube).
Preimplantation genetic testingGenetics: A technique used during IVF in which embryos are tested for the dystrophin mutation before implantation.
Prenatal testingGenetics: Tests done during pregnancy — CVS (10–13 weeks) or amniocentesis (15–20 weeks) — to determine whether a fetus carries the dystrophin mutation.
Prime editingResearch: A newer, more precise form of gene editing that can make tiny changes to DNA without cutting both strands.
Prior authorizationRights & Law: A requirement from an insurance company that a doctor get approval before a medication, test, equipment, or therapy is covered.
Patient assistance programsRights & Law: Programs — usually from drug manufacturers — that provide medication free or low-cost to patients who can't afford it, including the uninsured.

Reading frameGenetics: The way cells read DNA in groups of three letters to build a protein. Duchenne usually happens when the reading frame is broken; Becker often results when it's preserved.
RandomizationResearch: Using chance to decide which trial participants get the active treatment and which get the placebo, so the comparison is fair.
Respiratory muscle strengthCare: A measure of how strong the muscles used for breathing and coughing are. MIP tests the strength of inhaling muscles; MEP tests the strength of exhaling muscles.
Robotic feederDaily Life: Powered self-feeding devices (Obi, Bestic, Neater Eater, Meal Buddy) that restore independent eating when arm strength declines.
RSV prophylaxisCare: A long-acting antibody injection (nirsevimab or palivizumab) given to high-risk young children during RSV season to prevent severe infection.
RhabdomyolysisCare: Breakdown of muscle tissue that releases proteins into the bloodstream and can damage the kidneys.
Respite careDaily Life: Short-term care provided by someone else so the primary caregiver can rest, work, sleep, or take a real break.
Reproductive options for carriersGenetics: The full range of paths a carrier family can consider: natural conception with or without prenatal testing, IVF with PGT, donor egg, adoption, or choosing not to have more biological children.

SteroidsTreatment: Anti-inflammatory medicines that are the long-standing foundation of Duchenne care. They slow muscle weakening, protect heart and lung function, and prolong walking. Common types include prednisone, deflazacort, and the newer steroid-like medicine vamorolone.
Six-minute walk testCare: A test that measures how far a person can walk in six minutes. It's used in many Duchenne trials to track changes in endurance and mobility.
Standard of careCare: The treatments and check-ups that experts recommend for most people with Duchenne, based on current guidelines.
Stop-codon readthroughTreatment: A treatment approach for children whose dystrophin gene contains a premature 'stop' signal. The medicine helps the cell read past the stop and produce more dystrophin protein. The only approved medicine in this category, ataluren (Translarna), is available in the United Kingdom; it is not approved in the United States and the European Union did not renew its conditional authorization in March 2025.
ScoliosisCare: A sideways curve of the spine that can develop as trunk muscles weaken, especially after a child stops walking. It's monitored regularly and sometimes treated with bracing or surgery.
Sleep studyCare: An overnight test that checks breathing, oxygen, and sleep quality. It's used to decide whether nighttime breathing support is needed.
Sham procedureResearch: A 'placebo' version of a procedure (like a fake infusion or injection) used in some trials to keep participants and staff blinded.
SevasemtenTreatment: An investigational oral medicine designed to protect dystrophin-deficient muscles from damage during contraction. Being studied in both Becker and Duchenne muscular dystrophy.
SGT-001Treatment: An investigational micro-dystrophin AAV gene therapy for Duchenne developed by Solid Biosciences.
Secondary outcomeResearch: Additional things a clinical trial measures alongside the primary outcome, such as quality of life, fatigue, or specific muscle group strength.
Serious adverse eventResearch: An adverse event that is life-threatening, requires hospitalization, causes lasting harm, or is otherwise medically serious. SAEs must be reported quickly.
Social workerCare: A professional who helps families cope with emotional, practical, and financial challenges of a chronic condition.
Seat elevationDaily Life: A power feature that raises the wheelchair seat to eye level or counter height — now covered by US Medicare and increasingly by private insurance.
StanderDaily Life: A passive device that supports the user in a standing position, used in PT and at home for bone health, contracture prevention, and circulation.
StairliftDaily Life: Vertical mobility solutions inside the home — stairlifts (seated), platform lifts (wheelchair), through-floor lifts, and residential elevators.
Switch accessDaily Life: Alternative wheelchair and computer controls — sip-and-puff, head arrays, foot switches, single-switch scanning — for users without standard joystick or keyboard access.
Section 504Rights & Law: A 1973 federal civil rights law banning disability discrimination by any program receiving federal funds — the basis for school 504 plans, college accommodations, and hospital access.
SpironolactoneTreatment: An older, more affordable aldosterone antagonist used when eplerenone isn't available. Can cause breast tissue tenderness in boys — usually reversible if switched.
Stress dosingCare: Giving extra steroid during illness, injury, or surgery because a body used to daily steroids cannot make enough cortisol on its own when stressed.
Solu-CortefCare: Injectable hydrocortisone given as an emergency shot during adrenal crisis when oral steroid can't be given or absorbed.
Steroid taperCare: A slow, supervised reduction in daily steroid dose used when stopping or switching steroids — never an abrupt stop.
Spine X-rayCare: A standing or sitting X-ray of the back to check for scoliosis and vertebral compression fractures.
SupplementsCare: Vitamins, minerals, herbs, or over-the-counter products families add to their child's routine. Always review with the care team for interactions.
SuccinylcholineCare: A short-acting muscle relaxant used in some emergency anesthesia. Contraindicated in Duchenne — must be avoided.
School nurse care planDaily Life: A written plan kept in the nurse's office covering daily medications, stress-dose protocol, emergency contacts, anesthesia precautions, and signs of trouble.
Seating clinicCare: A specialized appointment — usually with a PT, OT, and rehab technology supplier — where your son's wheelchair is evaluated, prescribed, and fit.
Sibling supportDaily Life: Programs, conversations, and intentional time aimed at the brothers and sisters of a child with Duchenne.
SSIRights & Law: Supplemental Security Income — a federal cash benefit for children and adults with disabilities and limited income/resources. Often a gateway to Medicaid.
Scoliosis surgeryCare: A major orthopedic surgery that straightens a curving spine using titanium rods and screws fused along the vertebrae. Far less common in the steroid era.
Special needs trustRights & Law: A legal trust designed to hold assets for a person with a disability without disqualifying them from government benefits like SSI and Medicaid.
Step therapyRights & Law: An insurance rule that requires a cheaper or older drug to be tried (and fail) before a newer or more expensive one is covered.
Specialty pharmacyCare: A pharmacy that handles complex, high-cost medications — including most Duchenne therapies — and coordinates shipping, prior authorization, and copay assistance.

TREAT-NMDResearch: An international network for neuromuscular conditions that maintains patient registries and care guidelines used worldwide.
Transition to adult careCare: The process of moving from pediatric specialists to adult providers as a young person with Duchenne grows up. Good transition planning starts years in advance.
Taldefgrobep alfaTreatment: An investigational myostatin-blocking medicine studied in Duchenne. By lowering myostatin, the goal is to allow muscles to grow larger and stronger.
Time frameResearch: The point in time, or window, when a clinical trial measures an outcome — for example 'baseline to 52 weeks' or 'at month 12'.
Tilt-in-spaceDaily Life: Wheelchair features that shift the user's position to redistribute pressure, manage fatigue, and protect skin and posture.
TLSODaily Life: A custom torso brace used for scoliosis management or post-spinal-surgery support.
Transfer boardDaily Life: A smooth board that bridges two surfaces (bed to chair, chair to car) for sliding transfers during the transitional phase.
TIVACare: Total intravenous anesthesia — anesthesia delivered entirely through an IV (no inhaled gases). Usually centered on propofol.
Tendon release surgeryCare: A targeted orthopedic procedure to lengthen a tight tendon when contractures are limiting position or comfort.
TracheostomyCare: A surgical opening in the neck connecting to the windpipe, used to deliver long-term ventilator support when non-invasive options are no longer enough.
Transition clinicCare: A specialized program — often within a children's hospital — that prepares teens with chronic conditions for the move to adult healthcare.

UN CRPDRights & Law: The 2006 UN treaty ratified by 190+ countries that establishes disability rights as human rights — the global reference standard.
UK Equality ActRights & Law: The UK's main disability rights framework — Equality Act 2010 for civil rights, Care Act 2014 for adult social care, plus EHCPs, NHS CHC funding, and Motability vehicles.

Vitamin DCare: Nutrients important for bone health. Children with Duchenne are often supplemented because steroid use and limited sun/movement can lower bone strength.
ViltolarsenTreatment: An exon-skipping therapy approved for boys whose mutation is amenable to skipping exon 53. Given as a weekly IV infusion.
VamoroloneTreatment: A newer steroid-like medicine designed to slow Duchenne progression with potentially fewer side effects on growth and bone density than traditional steroids.
VesleteplirsenTreatment: An investigational next-generation exon-skipping therapy designed for boys whose mutation is amenable to skipping exon 51. It is being studied as a potentially more potent successor to eteplirsen.
Vertebral fractureCare: A small collapse or wedge-shaped break in one of the bones of the spine. Often painless in Duchenne, found on routine spine X-ray.
Volatile anestheticsCare: Inhaled anesthetic gases commonly used in general anesthesia. Avoided in Duchenne because they can trigger an MH-like reaction.
Vocational rehabilitationRights & Law: A state-run program that helps people with disabilities prepare for, find, and keep employment — including assistive technology, training, and job coaching.

Washout periodResearch: Time off a previous treatment before starting a new one or joining a trial, so the earlier medicine doesn't affect the new study.
WC-19Daily Life: The crash-tested safety standard for wheelchairs used as seats in motor vehicles — look for WC-19 compliance when buying any chair that will ride in a van or bus.
Wheelchair-accessible vanDaily Life: A van (often a converted minivan) with a ramp or lift and tie-downs, so your son can ride in his wheelchair without transferring.

X-linkedGenetics: A pattern of inheritance where the gene change is on the X chromosome. Because boys have only one X, a single Duchenne gene change usually causes the condition.

Zoledronic acidTreatment: A bisphosphonate given by IV infusion — usually once or twice a year — to strengthen bones and reduce fracture risk.