Congenital muscular dystrophies

Susan E. Sparks, Diana M. Escolar

Research output: Contribution to journalArticle

Abstract

Congenital muscular dystrophies (CMDs) are a heterogeneous group of disorders characterized by muscle weakness from birth, or shortly after, and variable clinical manifestations of the eye and central nervous system. Some of these disorders are fatal in the first years of life, whereas others have a milder course, with survival into adulthood. The CMDs were initially classified by clinical features and country of origin; however, with new molecular techniques it is now possible to classify these patients better. More than 10 genes have been identified to date that cause forms of CMD. However, even with current molecular diagnostic techniques, only approximately 25-50% of patients with CMD have an identifiable genetic mutation. In addition, some phenotypic classifications have been attempted. There is significant overlap between the phenotypic and molecular classifications, making diagnosis within this heterogeneous group of disorders difficult.

Original languageEnglish (US)
Pages (from-to)47-79
Number of pages33
JournalHandbook of Clinical Neurology
Volume101
DOIs
StatePublished - 2011

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Muscular Dystrophies
Eye Manifestations
Molecular Diagnostic Techniques
Muscle Weakness
Central Nervous System
Parturition
Mutation
Survival
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Congenital muscular dystrophies. / Sparks, Susan E.; Escolar, Diana M.

In: Handbook of Clinical Neurology, Vol. 101, 2011, p. 47-79.

Research output: Contribution to journalArticle

Sparks, Susan E. ; Escolar, Diana M. / Congenital muscular dystrophies. In: Handbook of Clinical Neurology. 2011 ; Vol. 101. pp. 47-79.
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