Congenital muscular dystrophy
| Congenital muscular dystrophy | |
|---|---|
 |
|
| Autosomal recessive | |
| Classification and external resources | |
| Specialty | neurology |
| ICD-9-CM | 359.0 |
| eMedicine | article/1180214 |
Congenital muscular dystrophies 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.
The subtypes of congenital muscular dystrophy have been established through variations in multiple genes. It should be noted that phenotype, as well as, genotype classifications are used to establish the subtypes, in some literature.
One finds that congenital muscular dystrophies can be either autosomal dominant or autosomal recessive in terms of the inheritance pattern, though the latter is much more common
Individuals who suffer from congenital muscular dystrophy fall into one of the following types:
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.
The genetics of congenital muscular dystrophy are autosomal recessive which means two copies of an abnormal gene must be present for the disease or trait to happen. In the case of collagen VI-deficient, it is autosomal dominant, which means you could inherit the gene in question from one parent.
The prevalence for congenital muscular dystrophy seems to be between 2.6-4.5 in 10,000 according to Reed, 2009. MDCIA, for example is due to a mutation in the LAMA-2 gene and is involved with the 6q2 chromosome.
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