muscular dystrophy-dystroglycanopathy type B5

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutatio

A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Proximal amyotrophy
• Proximal muscle weakness
• Generalized muscle weakness
• Hypotonia
• Shoulder girdle muscle weakness
• Motor delay
• Achilles tendon contracture
• Facial palsy
• Cerebellar atrophy

Also known as: FKRP-related congenital muscular dystrophy; MDC1C; MDDGB5; congenital muscular dystrophy 1C; muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5