Duchenne Muscular
Dystrophy (DMD)
Causes
1. Genetic mutation
2. Inheritance
Symptoms
1. Muscle weakness: Progressive muscle weakness,
particularly in the legs, hips, and shoulders.
2. Delayed motor milestones: Delayed ability to walk, run,
or perform physical activities.
3. Muscle wasting: Muscle wasting and degeneration,
particularly in the legs and pelvis.
4. Cardiac complications: Cardiomyopathy and heart failure
can occur.
Diagnosis
1. Genetic testing: Genetic testing can confirm the
diagnosis of DMD.
2. Muscle biopsy: Muscle biopsy can show the absence or
deficiency of dystrophin protein.
3. Clinical evaluation: Clinical evaluation, including
medical history and physical examination.
Treatment and Management
1. Corticosteroids: Corticosteroids can slow disease
progression and improve muscle strength.
2. Physical therapy: Physical therapy can help maintain
muscle function and mobility.
3. Respiratory support: Respiratory support, such as
ventilation, may be necessary.
4. Cardiac monitoring: Regular cardiac monitoring and
management of cardiac complications.
5. Support services: Support services, such as counselling
and peer support, can help individuals and families cope with DMD.
6. Team approach: A multidisciplinary team of healthcare
professionals, including physicians, therapists, and nurses, work together to
provide comprehensive care.
Rehabilitation can play an important role in patients with
DMD by preventing further complications and improving the quality of life.
Early diagnosis and treatment can help improve quality of
life and slow disease progression for individuals with DMD
