Distal myopathy

Marco Savarese, Manu Jokela, Bjarne Udd

Research output: Chapter in Book/Report/Conference proceedingChapterScientificpeer-review

Abstract

Distal myopathies are a group of genetic, primary muscle diseases. Patients develop progressive weakness and atrophy of the muscles of forearm, hands, lower leg, or feet. Currently, over 20 different forms, presenting a variable age of onset, clinical presentation, disease progression, muscle involvement, and histological findings, are known. Some of them are dominant and some recessive. Different variants in the same gene are often associated with either dominant or recessive forms, although there is a lack of a comprehensive understanding of the genotype–phenotype correlations. This chapter provides a description of the clinicopathologic and genetic aspects of distal myopathies emphasizing known etiologic and pathophysiologic mechanisms.

Original languageEnglish
Title of host publicationHandbook of Clinical Neurology
Subtitle of host publicationMotor System Disorders, Part I: Normal Physiology and Function and Neuromuscular Disorders
EditorsDavid S. Younger
PublisherElsevier
Pages497-519
Number of pages23
ISBN (Print)978-0-323-98818-6
DOIs
Publication statusPublished - 2023
Publication typeA3 Book chapter

Publication series

NameHandbook of Clinical Neurology
Volume195
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Keywords

  • Distal muscular dystrophies
  • Distal myopathy
  • Feet weakness
  • Hand weakness

Publication forum classification

  • Publication forum level 2

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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