merosin-deficient congenital muscular dystrophy type 1A (MDC1A)

Genetics

• associated with defects in LAMA2 gene

Clinical manifestations

• difficulty walking
• hypotonia
• proximal weakness
• hyporeflexia

Radiology

• magnetic resonance imaging - white matter hypodensity

Database

• OMIM: https://mirror.omim.org/entry/607855