CONGENITAL MYOPATHIES

Question 1

variety of disorders with common clinical features but different pathologic findings

proximal or generalized muscle weakness, hypotonia

Answer 1

congenital myopathies

Question 2

autosomal dominant
cytoplasmic cores, eosinophilic*
type I fibers
hypotonia, skeletal deformities, *malignant hyperthermia

Answer 2

central core disease-autosomal dominant

Question 3

aggregates of subsarcolemmal spindle shaped particles (nemaline rods)
-Z band derived affects type I fibers*

S/S:

• weakness, hypotonia*, delayed motor development
• proximal limb muscles*
• skeletal abnormalities*

Answer 3

nemaline myopathy, autosomal dominant and recessive, variable inheritance

Question 4

abundance of centrally located nuclei involving majority of muscle fibers

type I fibers*, but can occur in both

S/S: *ocular and facial muscles, *hypotonia w/ slowly progressive limb muscle weakness

Answer 4

centronuclear myopathy, autosomal recessive, x-linked recessive