Congenital muscular dystrophies

Congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive myopathies presenting at birth with hypotonia, delayed motor development, and early onset of progressive muscle weakness, confirmed with a dystrophic pattern on muscle biopsy. 

There is a large spectrum of clinical manifestations in the different types of CMDs: from a severe and often early fatal infant syndrome with feeding and respiratory troubles to a moderate motor delay and mild or moderate limb-girdle involvement during childhood compatible with survival into adult life 3,5. Common symptoms are:

  • hypotonia (floppy baby)
  • developmental delay
  • seizures
  • poor vision

CMDs are diagnosed by the analysis of the clinical severity and progression and confirmed by a muscle biopsy showing the presence of a dystrophic process without histological evidence of another neuromuscular disease 4,5

  • mutations in molecules (merosin: laminin- α2) with roles in cell migration and connection
  • autosomal recessive
  • muscle biopsy: mild to moderate dystrophic changes, +/- inflammatory infiltrate, +/- absent staining laminin- α2
Classification
  • CMD 1: abnormal white matter varies from mild (CMD1 merosin positive) to moderate-severe (CMD 1 merosin negative)
  • CMD 2: Fukuyama congenital muscular dystrophy (FCMD), moderate dysplasia of cerebral neocortex and cerebellum, abnormal white matter
  • CMD 3: Santavuori muscle-eye-brain (MEB) Finnish-type, less severe than CMD 4, with ventriculomegaly, vermian hypogenesis, dysplastic cortex, patchy abnormal white matter +/- callosal dysgenesis
  • CMD 4: Walker-Warburg syndrome, most severe , with cobblestone brain, massive ventriculomegaly with absent/abnormal callosum, no myelin, kinked pons midbrain, vermian hypoplasia +/- cephalocele

Described features in general include:

The condition was firstly described by the English neurologist Frederick Eustace Batten (1865-1918) in his publications in 1903 and 1904 5-6.

Share article

Article information

rID: 39159
Section: Gamuts
Tag: cases
Synonyms or Alternate Spellings:
  • Congenital muscular dystrophy
  • CMD
  • CMDs
  • Congenital muscular dysptrophies

Support Radiopaedia and see fewer ads

Cases and figures

  • Drag
    Case 1: Duchenne muscular dystrophy
    Drag here to reorder.
  • Updating… Please wait.
    Loadinganimation

    Alert accept

    Error Unable to process the form. Check for errors and try again.

    Alert accept Thank you for updating your details.