Congenital muscular dystrophies (central nervous system manifestations)
Updates to Article Attributes
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.
Clinical presentation
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.
Pathology
- 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
Radiographic features
Described features in general include:
- cobblestone brain
- myelination defects
- Z-shaped brainstem/hypoplastic vermis
- ventriculomegaly
- dysgenesis of the corpus callosum
History and etymology
The condition was firstly described by the English neurologist Frederick Eustace Batten (1865-1918) in his publications in 1903 and 1904 5-6.
-<li><a title="Lissencephaly type II" href="/articles/lissencephaly-type-ii">cobblestone brain</a></li>- +<li><a href="/articles/lissencephaly-type-ii">cobblestone brain</a></li>