megaconial type congenital muscular dystrophy

A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozyg

A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13.

Signs and symptoms

• Elevated circulating creatine kinase activity
• Delayed speech and language development
• Muscular dystrophy
• Mitochondrial hypertrophy
• Generalized hypotonia
• Increased endomysial connective tissue
• Muscle weakness
• Intellectual disability
• Poor speech
• Facial palsy

Also known as: congenital megaconial myopathy; congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect; congenital muscular dystrophy with mitochondrial structural abnormalities; megaconial congenital muscular dystrophy