These are a type of muscular dystrophy. Don’t confuse these diseases with non-dystrophic congenital myopathies.
Merosin (Laminin 2) negative CMD:
Clinical features:
Cause hypotonia in the infant
Pathology, Muscle or skin biopsy:
H and E: dystrophic picture
Immunohistochemistry: absent Mersonin (Laminin 2) in basement membrane.
Findings on investigations:
MRI: white matter changes
Merosin positive CMD:
This is a group of diseases.
CMD with CNS malformations: a group of diseases. Merosin is positive.
Findings on investigations:
MRI: various CNS malformations