NDLI: Distal hereditary upper limb muscular atrophy.

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Distal hereditary upper limb muscular atrophy.

Content Provider	Semantic Scholar
Author	Gross, Donald W. Rajput, Ali H. Yeung, Mary Au
Copyright Year	1998
Abstract	OBJECTIVES To identify the clinical, electrophysiological, and genetic characteristics of a family with an unusual form of hereditary motor neuron disease. METHODS Surviving members of a pedigree in which affected members presented with weakness and atrophy of distal musculature in the upper limbs were examined clinically and electrophysiologically, and had genetic testing. RESULTS The disease was autosomal dominantly inherited and manifested as weakness and atrophy of distal musculature in the upper limbs, with minimal involvement of lower limbs, brisk reflexes, minimal sensory findings, and considerable variability in severity among the affected persons. Nerve conduction studies disclosed near normal motor conduction velocity, reduced motor compound action potential amplitude, prolonged distal motor latency, prolonged sensory latency, and normal sensory compound action potential amplitude. Needle electrode examination showed reduced number and increased size of motor unit potentials, but no fibrillations or fasciculations. CONCLUSION Distal upper limb muscular atrophy is a distinct clinical entity.
Starting Page	3
Ending Page	33
Page Count	31
File Format	PDF HTM / HTML
Alternate Webpage(s)	http://jnnp.bmj.com/content/jnnp/64/2/217.full.pdf
PubMed reference number	9489534v1
Volume Number	64
Issue Number	2
Journal	Journal of neurology, neurosurgery, and psychiatry
Language	English
Access Restriction	Open
Subject Keyword	Abducens Nerve Diseases Atrophic Bulbo-Spinal Atrophy, X-Linked Cardiac conduction Genetic screening method Limb structure Lower Extremity Motor Neuron Disease Motor Neurons Motor unit Muscle Weakness Muscular Atrophy Muscular fasciculation Reflex action Set of muscles Upper Extremity genetic pedigree
Content Type	Text
Resource Type	Article

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