Disease: Congenital Muscular Dystrophy
Common Name: CMD
Age of Onset: Symptoms can be noted at birth or during the first year of life
Duration: lifetime
Males/Females/Both: It is an autosomal recessive, so it affects both males and females equally.
Causes:
- inherited gene defects or mutations affecting proteins required by muscles and/or eyes and brain
- malfunction or deficiency of merosin protein
- spontaneous newly developed mutations
Symptoms:
- muscle weakness
- joint stiffness or looseness
- spinal curvature
- respiratory problems
- mental retardation/ learning disabilities
- eye defects
- seizures
- lack of muscle tone
Prognosis/Progression: Disease progressively worsens over time, and can lead to increased mental disability. Depending on the type of CMD, some die as infants, while some live until adulthood with minimal disability. Death sometimes occurs between 10 and 30 years of age due to respiratory failure.
Treatment Options: There is no specific treatment for CMD.
- prevention and correction of skeletal abnormalities
- stretching, bracing, orthopedic procedures such as spinal fusion
- respiratory therapies to treat respiratory insufficiency
- orthopedic surgery to prevent contractures and scoliosis
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