Neuromuscular diseases

Thomas W. Prior

doi:10.1007/978-3-319-19674-9_9

Neuromuscular diseases

Thomas W. Prior

Research output: Chapter in Book/Report/Conference proceeding › Chapter › peer-review

Abstract

This chapter describes clinical manifestations, pathology, and the molecular diagnosis of selected neuromuscular disorders which are commonly tested for in the molecular pathology laboratory. Neuromuscular function can be impaired as a result of defects in the nervous system, muscle, or both. The disorders described are all heritable. However the disorders have different patterns of inheritance and are caused by different types of mutations. The molecular assay utilized is determined by the type of mutation to be identified. The molecular testing allows for more accurate diagnostic, carrier, predictive, and prenatal testing. The clinical utility, interpretation, and laboratory issues will be described for each disorder.

Original language	English
Title of host publication	Molecular Pathology in Clinical Practice:Second Edition
Publisher	Springer International Publishing
Pages	127-138
Number of pages	12
ISBN (Electronic)	9783319196749
ISBN (Print)	9783319196732
DOIs	https://doi.org/10.1007/978-3-319-19674-9_9
State	Published - Jan 1 2016

Keywords

Becker
Duchenne
Kearns-Sayre syndrome
Kennedy disease
MELAS
MERRF
Mitochondrial encephalomyopathies
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
Muscular dystrophy
Myoclonic epilepsy with ragged-red fibers
Myotonic dystrophy
Neuromuscular disease
SMA
Spinal muscular atrophy
Spinobulbar muscular dystrophy
X-linked

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10.1007/978-3-319-19674-9_9

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title = "Neuromuscular diseases",

abstract = "This chapter describes clinical manifestations, pathology, and the molecular diagnosis of selected neuromuscular disorders which are commonly tested for in the molecular pathology laboratory. Neuromuscular function can be impaired as a result of defects in the nervous system, muscle, or both. The disorders described are all heritable. However the disorders have different patterns of inheritance and are caused by different types of mutations. The molecular assay utilized is determined by the type of mutation to be identified. The molecular testing allows for more accurate diagnostic, carrier, predictive, and prenatal testing. The clinical utility, interpretation, and laboratory issues will be described for each disorder.",

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doi = "10.1007/978-3-319-19674-9\_9",

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N2 - This chapter describes clinical manifestations, pathology, and the molecular diagnosis of selected neuromuscular disorders which are commonly tested for in the molecular pathology laboratory. Neuromuscular function can be impaired as a result of defects in the nervous system, muscle, or both. The disorders described are all heritable. However the disorders have different patterns of inheritance and are caused by different types of mutations. The molecular assay utilized is determined by the type of mutation to be identified. The molecular testing allows for more accurate diagnostic, carrier, predictive, and prenatal testing. The clinical utility, interpretation, and laboratory issues will be described for each disorder.

AB - This chapter describes clinical manifestations, pathology, and the molecular diagnosis of selected neuromuscular disorders which are commonly tested for in the molecular pathology laboratory. Neuromuscular function can be impaired as a result of defects in the nervous system, muscle, or both. The disorders described are all heritable. However the disorders have different patterns of inheritance and are caused by different types of mutations. The molecular assay utilized is determined by the type of mutation to be identified. The molecular testing allows for more accurate diagnostic, carrier, predictive, and prenatal testing. The clinical utility, interpretation, and laboratory issues will be described for each disorder.

KW - Becker

KW - Duchenne

KW - Kearns-Sayre syndrome

KW - Kennedy disease

KW - MELAS

KW - MERRF

KW - Mitochondrial encephalomyopathies

KW - Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes

KW - Muscular dystrophy

KW - Myoclonic epilepsy with ragged-red fibers

KW - Myotonic dystrophy

KW - Neuromuscular disease

KW - SMA

KW - Spinal muscular atrophy

KW - Spinobulbar muscular dystrophy

KW - X-linked

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DO - 10.1007/978-3-319-19674-9_9

M3 - Chapter

AN - SCOPUS:85027521676

SN - 9783319196732

SP - 127

EP - 138

BT - Molecular Pathology in Clinical Practice:Second Edition

PB - Springer International Publishing

ER -

Neuromuscular diseases

Abstract

Keywords

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