muscular dystrophy type 1D (MDC1D)

Pathology

• skeletal muscle biopsy
  • dystrophic changes
  • reduced immunolabeling of alpha-dystroglycan

Genetics

• autosomal recessive
• associated with defects in the LARGE1 gene

Clinical manifestations

• presents in infancy
• muscle weakness
• contractures
• structural brain defects, with or without mental retardation

Radiology

• magnetic resononce imaging, brain
  • white matter changes & subtle structural abnormalities

More general terms

• muscular dystrophy

Additional terms

• acetylglucosaminyltransferase-like protein LARGE; acetylglucosaminyltransferase-like 1A (LARGE, LARGE1, KIAA0609)

Database

• OMIM: https://mirror.omim.org/entry/608840