Congenital Muscular Dystrophy

Reference work entry

Congenital muscular dystrophy (CMD) refers to a group of genetic disorders in which weakness and an abnormal muscle biopsy are present at birth.

Synonyms and Related Disorders

Merosin-negative CMD; Merosin-positive CMD with mental retardation and neuronal migration defects (Fukuyama CMD, muscle-eye-brain disease, Walker-Warburg syndrome); Merosin-positive CMD (rigid spine disease, Ullrich disease, pure CMD)

Genetics/Basic Defects

  1. 1.
    1. a.

      Genetic heterogeneity

    2. b.

      Most are autosomal recessive (Muntoni and Voit 2004)

  2. 2.

    Caused by genetic defects in proteins of the sarcolemmal membrane or its supporting structures. The proteins may also be expressed in the central nervous system, and many forms of CMD are associated with structural brain and eye anomalies

  3. 3.
    Classification of CMD according to biochemical defect (Cardamone et al. 2008)
    1. a.
      Extracellular matrix protein
      1. i.
        Merosin (lamin-α2) ( LAMA2): Merosin-deficient CMD (MDC1A)
        1. a)

          Demyelinating neuropathy

        2. b)

          White matter...


Muscular Dystrophy Severe Mental Retardation Congenital Muscular Dystrophy Congenital Muscular Dystrophy Congenital Nystagmus 
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