DEGENERATING DISEASES/DYSTROPHIES

Question 1

neuronal muscle atrophy
hyperreflexia due to loss of LMNs and UMNs in the anterior horns of spinal cord and corticospinal tracts

copper zinc superoxide dismutase gene chrom 21

reactive gliosis and loss of anterior (motor) root myelinated fibers (precentral gyrus)

S/S:
early:asymmetric weakness of hands, cramping and spasticity of arms and legs

progression: diminished muscle strength and bulk

fasciculations

respiratory muscles involved

Answer 1

amyotrophic lateral sclerosis

Question 2

heterogeneous group of inherited disorders characterized clinically by progressive severe muscular weakness and wasting, beginning in childhood

Answer 2

muscular dystrophy

Question 3

what is this x-linked muscular dystrophy?

most common form of muscular dystrophy

5 years w/ weakness

• normal at birth, delayed walking
• gower’s maneuver

wheelchair dependence at age 10-12 years

S/S: pelvic girdle (clumsiness), pseudohypertrophy, heart failure, cognitve impairment

what is this and the gene indicated?

important morphology?

Answer 3

x-linked duchenne muscular dystrophy

dystrophin

*variation in fiber size

increased # of internalized nuclei

degeneration, necrosis

proliferation of endomysial CT

Question 4

what is this x-linked muscular dystrophy?

mutation in the dystrophin gene

morphology similar to DMD

possible normal life span

Answer 4

becker’s muscular dystrophy

Question 5

what are the autosomal forms of muscular dystrophy?

Answer 5

limb girdle muscular dystrophy

myotonic dystrophy

Question 6

name this type of muscular dystrophy, autosomal or recessive?

other forms of muscular dystrophy that share many of the histologic features of DMD and BMD but have distinct clinical and pathologic features

Answer 6

autosomal

Question 7

a group of autosomal muscular dystrophies which affect the proximal musculature of the trunk and limbs similar to DMD

Answer 7

limb girdle muscular dystrophies

type I: autosomal dominant

type II: autosomal recessive, 7 subtypes

Question 8

most common form of adult dystrophy

*cardinal neuromuscular symptom: myotonia

autosomal dominant characterized by anticipation which increases in severity

similar in presentation to DMD
RIng fiber
decreases IgG, abnormal GTT

Answer 8

myotonic dystrophy