A group of disorders with somewhat similar phenotype course. The group is characterized by weakness at birth or shortly thereafter. The course of progression is relatively stabile and or slowly progressive. Development gains are typical early in the disease, growth and weight inhibits the gross motor progression secondary to weakness and contractures.
Physical characteristics of Congenital myopathy?
Winging of capulae and wasting of shoulder girdle, good trophic appearance of pelvic girdle and congenital deformity of hands with failure to completely extend the fingers on voluntary attempt.
Most common type of Congenital myopathy occurring in 2 per 100,000 births.
heterogeneous disease, either autosomal dominant or recessive
more than 5 types identified
typically presents in infancy
What is nemaline myopathy characterized by?
hypotonia, feeding difficulties, aspiration, respiratory insufficiency, contractures, spinal rigidity, weakness of extremities, lack of flexibility of trunk.
Central core disease?
Inherited as recessive or dominant
interference in the protein that controls the calcium release channels
affects the process of the excitation-contracture
typically presents in infancy, but can present later
CK levels normal or mildly elevated
congenital hip dislocation, scoliosis, talipes equinovarus, at risk for malignant hyperthermia (life threatening reaction to anesthetics)
inherited recessively, can have the same mutation as central cord
diagnosed via muscle biopsy
occurs in type I fibers and lacks oxidative enzyme activity
4 groups identified
What are 4 groups of multicore-minicore diseases characterized by?