Duchenne Muscular Dystrophy (DMD): Symptoms & Treatment

Overview

Duchenne muscular dystrophy (DMD) causes progressive weakening of skeletal and heart muscles and worsens over time.
Commonly begins by age 6 and mainly affects boys, although girls who are carriers can have milder symptoms.
It is the most common form of muscular dystrophy and affects about 1 in 3,600 male infants.
DMD is ultimately fatal, with death typically due to lung or heart complications.

Early Symptoms: Appear between ages 2-4, include:
- Progressive muscle weakness and atrophy, mainly in legs and pelvis.
- Calf muscle hypertrophy.
- Difficulty climbing stairs and walking.
- Frequent falls, waddling gait, and toe walking.
- Fatigue.
Other Symptoms:
- Cardiomyopathy and breathing difficulties.
- Cognitive impairments and learning differences.
- Delayed speech, developmental delay, scoliosis, and short stature.
2.5%-20% of female carriers may exhibit milder symptoms.

Caused by a mutation in the gene for dystrophin, a key protein in muscle structure.
X-linked recessive inheritance, often from carrier mothers.
About 30% of cases arise from spontaneous mutations.

Tests include:
- Creatine kinase blood test: Elevated levels indicate muscle damage.
- Genetic blood test: Confirms absence of dystrophin gene.
- Muscle biopsy: Examines muscle tissue under a microscope.
- ECG: Checks heart health and for DMD-related signs.

No cure; treatment focuses on symptom management and quality of life improvement.
Supportive therapies:
- Corticosteroids: Delay muscle strength loss and improve lung function.
- Medications for cardiomyopathy: Slow progression and prevent heart failure.
- Physical therapy: Prevents muscle contractures through stretching exercises.
- Surgery: Addresses severe scoliosis and contractures.
- Gentle exercise: Encouraged to prevent muscle atrophy.
- Mobility aids and assisted ventilation for severe cases.
Recent drug developments (e.g., exon skipping treatments) show promise, though benefits in strength and function are still under review.

As an inherited condition, there's no prevention method for DMD.
Genetic counseling is recommended for those concerned about passing on the condition.

DMD prognosis is poor, leading to worsening disability and early death (often by age 25), though supportive care advancements have improved life expectancy.

Advocacy for medical care and therapy access is crucial.
Support groups can provide community and shared experiences.
Regular healthcare team visits are necessary for ongoing management.
Healthcare teams provide personalized management plans and support for families.

Cleveland Clinic provides multiple resources, appointments, and support options for DMD patients and families.

Note: Always consult with healthcare professionals for the most current treatment options and support systems.