Myopathy

Question 1

what is congenital myopathy

Answer 1

d/t genetic defects

myopathies s structural abnormality - do not lose muscle fibers

affected CNS of PNS

Question 2

signs of floppy infant

Answer 2

frog leg

reduced movement

head lag

round back

rag doll

Question 3

lab of congenital myopathy

Answer 3

normal or mild elevated CK

normal EMG and NCV

muscle biopsy - gold standard

Question 4

ssx of congenital myopathy

Answer 4

onset early life - hereditary

floppy infant

hypotonia, hyporefelxia and proximal weakness

poor msucle bulk

dysmorphic figure

non progressive

Question 5

central core myopathy

Answer 5

dominant - 19q13.1

absent mitochondria and SR in core

nonprogressive proximal weakness and late milestones

(+) hx of malignant hyperthermia

Question 6

nemaline or rod body myopathy

Answer 6

recessive c some dominant - 1q21-q23

mild non progressive c hypotonia and proximal weakness

kyphoscolio, cardiomyopathy, pigeon chest, pes cavus, swallowing prob

respi failure in severe

Question 7

severe x-link myotubular myopathy

Answer 7

x-link recessive - Xq28

severe respi

hypotonia

swallong prob

contractures

weak facial and EOMs

Question 8

mini-core disease

Answer 8

autosomal recessive

dec in mitochondrial oxidative enzymes

hypotonia

delayed motor

mild facial weakness

diaphragmatic weakness

nocturnal hypoventilation

Question 9

congenital fiber type disproportion

Answer 9

recessive or dominant

type 1 is smaller than type 2

hypotonia

delayed gross motor

non progressive

kyphoscoliosis, long narrow face, high arch palate and high arch

Question 10

myotubular myopathy

Answer 10

centronuclear

non-x linked - dominant

hypotonia

delayed motor

weakness of proximal and distal

ptosis, EOMs

axial weakness