Dechene Muscular Dystrophy DMD
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder that primarily affects boys, causing progressive muscle degeneration and weakness. It is one of the most common and severe types of muscular dystrophy.
Signs and Symptoms
Symptoms typically appear in early childhood, usually between ages 2 and 5. They include:
Difficulty walking, running, or jumping
Frequent falls
Waddling gait
Enlarged calf muscles (pseudohypertrophy)
Weakness in the hips, thighs, shoulders, and pelvic muscles
Trouble climbing stairs
Delayed speech and motor skills development
Progressive loss of ambulation (usually by early teens)
Respiratory and cardiac issues in later stages
Progression
By age 3-5: Noticeable muscle weakness
By age 7-12: Difficulty walking; most children use a wheelchair by their early teens
By late teens: Increasing difficulty with breathing and heart function
By early adulthood: Severe respiratory and cardiac complications, which are the main causes of death
Causes
DMD is caused by mutations in the DMD gene, which is responsible for producing dystrophin, a protein essential for muscle strength and function. The absence or deficiency of dystrophin leads to muscle damage and progressive weakness. It is inherited in an X-linked recessive pattern, meaning it primarily affects boys, while females can be carriers.
Diagnosis
Physical Examination: Evaluating muscle weakness and delayed milestones
Creatine Kinase (CK) Test: High levels indicate muscle damage
Genetic Testing: Identifies mutations in the DMD gene
Muscle Biopsy: Confirms dystrophin deficiency
Electromyography (EMG): Assesses muscle function
Cardiac and Respiratory Tests: Monitor disease progression
Treatment
There is no cure for DMD, but treatments aim to manage symptoms and improve quality of life:
Corticosteroids (Prednisone, Deflazacort): Slow muscle degeneration
Exon Skipping Therapy (Eteplirsen, Golodirsen, Viltolarsen): Helps produce a functional form of dystrophin in some cases
Gene Therapy: Ongoing research aims to introduce functional dystrophin genes
Physical Therapy: Maintains mobility and prevents contractures
Braces and Mobility Aids: Support movement and posture
Cardiac Medications (ACE inhibitors, Beta-blockers): Manage heart problems
Respiratory Support (Ventilation, Cough Assist Devices): Helps breathing in later stages
Surgical Interventions: For scoliosis or tendon release
Conclusion
DMD is a progressive disorder with no cure yet, but advances in gene therapy and medication offer hope for better management and prolonged lifespan. Early diagnosis and multidisciplinary care can improve quality of life.
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