muscular dystrophy type 1C (MDC1C)

Pathology

• skeletal muscle biopsy
  • dystrophic changes
  • secondary deficiency of laminin alpha2
  • marked reduction in alpha-dystroglycan expression

Genetics

• autosomal recessive
• associated with defects in FKRP gene

Clinical manifestations

• hypotonia, muscle weakness, & joint contractures at birth or during the 1st weeks of life
• mental retardation with or without structural CNS changes may occur in a subset of patients
• inability to walk
• muscle hypertrophy

Laboratory

• marked elevation of serum creatine kinase

More general terms

• muscular dystrophy

Additional terms

• limb-girdle muscular dystrophy type 1C (LGMD1C)

Database

• OMIM: https://mirror.omim.org/entry/606612