Minimal
Change Myopathy
Minimal change myopathy is a
term reserved for neonates with generalized hypotonia, elevated serum
creatine phosphokinase, brief and small motor unit potentials, and variation
in muscle fiber size in muscle biopsy.
Congenital
Myopathy with Typical Light Microscopic Findings
Congenital
myopathy with typical light microscopic findings is a heterogeneous group
of disorders. They are grouped together because, when appropriately stained,
light microscopy shows a typical recognizable pattern. Electromyogram
may be normal or may show small-amplitude, brief-duration motor potentials.
These disorders are not associated with elevated serum creatine phosphokinase.
They include central core disease (NADH-tetrazoline
stain reveals central or pericentral round clear zones due to absence
of mitochondria; primarily in type I muscle fibers ),
nemaline myopathy (Gomori
trichrome stain reveals rodlike structures constituted by concentration
of actin filaments with predominantly subsarcolemmal distribution; primarly
in smaller and atrophic type I muscle fibers ),
myotubular myopathy (ATPase
at pH 4.6 stain reveals central or pericentral round clear zones in type
I and II fibers that result from failure of the immature central nucleus
),
and congenital fiber-type disproportion (ATPase
at pH 4.6 stain shows a predominance of small type I fibers ).
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