Congenital muscular dystrophies and congenital myopathies

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

PURPOSE OF REVIEW: The purpose of this review is to provide information regarding the diagnosis and natural history of some very rare disorders: congenital muscular dystrophies and congenital myopathies. Patients with these conditions share characteristics such as early onset of weakness and severe hypotonia. Other organs such as the brain, eyes, and skin may be involved. Diagnosis depends largely on recognition of phenotype, muscle biopsy, and mutation analysis. RECENT FINDINGS: More than 30 genes have been associated with these diseases, most of which have only been recognized in the past decade. Increasing availability of DNA analysis has been important in decreasing delay in diagnosis. SUMMARY: Patients with congenital muscular dystrophy or congenital myopathy are at high risk of complications including restrictive lung disease, orthopedic deformities, seizures, cardiomyopathy, and malignant hyperthermia. Life expectancy varies with the severity of complications. Having an accurate and specific diagnosis allows the neurologist to carry out anticipatory guidance and appropriate monitoring. New hope exists for experimental treatments for congenital muscular dystrophy and congenital myopathy as our understanding of pathogenesis evolves.

Original languageEnglish (US)
Pages (from-to)1509-1534
Number of pages26
JournalCONTINUUM Lifelong Learning in Neurology
Volume19
Issue number6
DOIs
StatePublished - Dec 2013

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Myotonia Congenita
Muscular Dystrophies
Malignant Hyperthermia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Muscle Hypotonia
Life Expectancy
Natural History
Cardiomyopathies
Lung Diseases
Orthopedics
Seizures
Phenotype
Biopsy
Muscles
Skin
Mutation
DNA
Brain
Genes

ASJC Scopus subject areas

  • Clinical Neurology
  • Genetics(clinical)

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Congenital muscular dystrophies and congenital myopathies. / Iannaccone, Susan T.; Castro, Diana.

In: CONTINUUM Lifelong Learning in Neurology, Vol. 19, No. 6, 12.2013, p. 1509-1534.

Research output: Contribution to journalArticle

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