Congenital Muscular dystrophy
Synonyms
1
Overview
Congenital muscular dystrophies (CMD) are autosomal recessively-inherited muscle diseases. They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
Symptoms
Most infants with CMD will display some progressive muscle weakness or muscle wasting (atrophy), although there can be different degrees and symptoms of severeness of progression. The weakness is indicated as hypotonia, or lack of muscle tone, which can make an infant seem unstable.
Children may be slow with their motor skills; such as rolling over, sitting up or walking, or may not even reach these milestones of life. Some of the more rarer forms of CMD can result in significant learning disabilities
Causes
CMD can be caused by a variety of different genes. Genetic mutations affecting some of the proteins necessary for muscles and sometimes for the eyes and or brain. Most forms are inherited in an autosomal recessive manner.
Diagnosis
In terms of the diagnosis on congenital muscular dystrophy, the following tests/exams are done:
- Lab study (CK levels)
- MRI (of muscle, and/or brain)
- EMG
- Genetic testing
Treatment
In terms of the management of congenital muscular dystrophy the American Academy of Neurology recommends that the individuals need to have monitoring of cardiac function, respiratory, and gastrointestinal. Additionally it is believed that therapy in speech, orthopedic and physical areas, would improve the persons quality of life.
While there is currently no cure available, it is important to preserve muscle activity and any available correction of skeletal abnormalities (as scoliosis).Orthopedic procedures, like spinal fusion, maintains/increases the individuals prospect for more physical movement.