🧬 Genetic Disorder

Duchenne Muscular Dystrophy

Also known as: DMD, Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy (DMD) is a severe X-linked recessive genetic disorder characterized by progressive muscle degeneration and weakness due to alterations in the dystrophin protein. Primarily affecting males, DMD typically manifests in early childhood, leading to loss of ambulation, respiratory and cardiac complications, and reduced life expectancy. Management focuses on supportive care, including physical therapy, respiratory support, and pharmacological interventions to slow disease progression and improve quality of life.

ICD-10: G71.0 Orphanet: ORPHA274 OMIM: 310200
👥 Approximately 1 in 3,500-5,000 live male births Prevalence
🔬 250 Active Trials

Imagine your muscles are like building blocks, and in Duchenne Muscular Dystrophy, some of those blocks are missing. This makes it hard to run, jump, and even breathe as you get older. Doctors try to help by giving medicine and exercises to keep your muscles as strong as possible.

Signs & Symptoms

  • Progressive muscle weakness
  • Delayed motor milestones
  • Gower's sign
  • Frequent falls
  • Difficulty running and jumping
  • Muscle cramps
  • Learning disabilities
  • Respiratory difficulties
  • Cardiomyopathy
  • Scoliosis
  • Elevated creatine kinase (CK) levels

Treatment Options

MEDICATION FDA Approved

Corticosteroids (Prednisone, Deflazacort)

MODERATELY EFFECTIVE
MEDICATION

Ataluren

MODERATELY EFFECTIVE
GENE THERAPY FDA Approved

Exon-skipping therapies (e.g., eteplirsen, golodirsen, viltolarsen)

MODERATELY EFFECTIVE
GENE THERAPY FDA Approved

Gene Therapy (delandistrogene moxeparvovec-rokl)

HIGHLY EFFECTIVE Approved 2023
THERAPY

Physical Therapy

SUPPORTIVE
THERAPY

Occupational Therapy

SUPPORTIVE
SUPPORTIVE

Respiratory Support (e.g., BiPAP, mechanical ventilation)

SUPPORTIVE
MEDICATION FDA Approved

Cardiac Management (e.g., ACE inhibitors, beta-blockers)

SUPPORTIVE
SURGERY

Scoliosis Surgery

SUPPORTIVE

Diagnosis

  • Clinical examination
  • Creatine kinase (CK) level measurement
  • Genetic testing (dystrophin gene mutation analysis)
  • Muscle biopsy
  • Electromyography (EMG)
  • Echocardiogram
  • MRI of muscles

History

Duchenne Muscular Dystrophy was first described in detail by the French neurologist Guillaume Benjamin Amand Duchenne in the mid-19th century. The genetic basis of the disease was discovered in 1986, with the identification of the dystrophin gene on the X chromosome.

Recent Breakthroughs

2023

FDA Approves First Gene Therapy for Duchenne Muscular Dystrophy

The FDA approved delandistrogene moxeparvovec-rokl (Elevidys), the first gene therapy for Duchenne muscular dystrophy (DMD). This adeno-associated virus (AAV) vector-based gene therapy delivers a truncated (micro-dystrophin) gene to muscle cells, aiming to improve muscle function in DMD patients.

2020

Viltolarsen Approved for DMD Patients Amenable to Exon 53 Skipping

The FDA approved viltolarsen, an exon-skipping drug, for DMD patients with mutations amenable to exon 53 skipping. This approval expanded the therapeutic options for a subset of DMD patients, offering a potential improvement in muscle function and disease progression.