congenital muscular dystrophy 1B

info · Genetic · ICD-10: G71.2

A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42.

Signs and symptoms

Achilles tendon contracture
Elevated circulating creatine kinase activity
Generalized muscle hypertrophy
Facial palsy
Muscular dystrophy
Generalized hypotonia
Motor delay
Gowers sign
Pectoralis amyotrophy
Sternocleidomastoid amyotrophy

Also known as: CMD1B; MDC1B; congenital muscular dystrophy type 1B