Congenital myopathy

Jump to navigation Jump to search
The printable version is no longer supported and may have rendering errors. Please update your browser bookmarks and please use the default browser print function instead.

WikiDoc Resources for Congenital myopathy

Articles

Most recent articles on Congenital myopathy

Most cited articles on Congenital myopathy

Review articles on Congenital myopathy

Articles on Congenital myopathy in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Congenital myopathy

Images of Congenital myopathy

Photos of Congenital myopathy

Podcasts & MP3s on Congenital myopathy

Videos on Congenital myopathy

Evidence Based Medicine

Cochrane Collaboration on Congenital myopathy

Bandolier on Congenital myopathy

TRIP on Congenital myopathy

Clinical Trials

Ongoing Trials on Congenital myopathy at Clinical Trials.gov

Trial results on Congenital myopathy

Clinical Trials on Congenital myopathy at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Congenital myopathy

NICE Guidance on Congenital myopathy

NHS PRODIGY Guidance

FDA on Congenital myopathy

CDC on Congenital myopathy

Books

Books on Congenital myopathy

News

Congenital myopathy in the news

Be alerted to news on Congenital myopathy

News trends on Congenital myopathy

Commentary

Blogs on Congenital myopathy

Definitions

Definitions of Congenital myopathy

Patient Resources / Community

Patient resources on Congenital myopathy

Discussion groups on Congenital myopathy

Patient Handouts on Congenital myopathy

Directions to Hospitals Treating Congenital myopathy

Risk calculators and risk factors for Congenital myopathy

Healthcare Provider Resources

Symptoms of Congenital myopathy

Causes & Risk Factors for Congenital myopathy

Diagnostic studies for Congenital myopathy

Treatment of Congenital myopathy

Continuing Medical Education (CME)

CME Programs on Congenital myopathy

International

Congenital myopathy en Espanol

Congenital myopathy en Francais

Business

Congenital myopathy in the Marketplace

Patents on Congenital myopathy

Experimental / Informatics

List of terms related to Congenital myopathy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Congenital myopathy is a term for any muscle disorder present at birth.[1] By this definition the congenital myopathies could include hundreds of distinct neuromuscular syndromes and disorders. Congenital myopathies do not show evidence for either a progressive dystrophic process (i.e., muscle death) or inflammation, but instead characteristic microscopic changes are seen in association with reduced contractile ability of the muscles. In general, congenital myopathies cause loss of muscle tone and muscle weakness in infancy and delayed motor milestones, such as walking, later in childhood.

Three distinct disorders are definitively classified as congenital myopathies: central core disease, nemaline rod myopathy, and centronuclear (myotubular) myopathy.

Central core disease is a dominantly inherited genetic disease characterized by mild leg weakness appearing in infancy. This weakness does not progress with age, but leads to delay in walking.

Nemaline rod myopathy is an autosomal dominant or autosomal recessive genetic disease characterized by infantile muscle weakness, loss of muscle tone, and the presence of "nemaline rods" in the muscle, accompanied by problems in suckling or feeding, delay in walking, and occasionally respiratory problems. Other characteristics surface with maturity, such as reduction of muscle bulk, weakness of the trunk and limbs, and development of a long and abnormally shaped face with a protruding jaw. Muscle weakness and wasting may progress slowly throughout life.

Centronuclear (myotubular) myopathy is an inherited genetic disorder in which the nuclei are abnormally found in the center of the muscle fibers. It is characterized by muscle weakness and loss of tone present at birth or by development of muscle weakness later in infancy. Weakness gets gradually worse and can become moderately severe. Infants may have ophthalmoplegia or paralysis of the eye muscles. Centronuclear myopathies occur in three forms:

  • The most severe form is present at birth, inherited as an X-linked genetic trait, and can cause severe respiratory muscle weakness. This is the form of centronuclear myopathy currently referred to as myotubular myopathy.
  • A less severe form that may present itself at birth or in early childhood progresses slowly and is inherited as an autosomal recessive genetic trait.
  • The least severe form first appears during the second and third decades of life and is slowly progressive; it is inherited as an autosomal dominant genetic trait.

Evaluation

AHA Scientific Statement: Management of Cardiac Involvement Associated With Neuromuscular Diseases

Cardiac Evaluation in Congenital Myopathy (CM)

Class IIa
"1. It is reasonable to perform cardiology evaluation with examination, ECG, and echocardiogram at the time of CM diagnosis, with follow-up assessments determined by the presence or development of abnormal findings or cardiac symptoms. (Level of Evidence: C) "

Treatment and prognosis

Patients with central core disease generally have a normal life expectancy with non-progressive muscle weakness. Patients with nemaline rod myopathy may have a normal life expectancy with progressive weakness, or may die early in infancy from respiratory distress depending upon the severity of the disorder. Patients with centronuclear (myotubular) myopathy generally have a poor prognosis and suffer an early death, usually in infancy. Treatment involves supportive measures to help patients cope with the symptoms of congenital myopathies.

Notes

  1. The first version of this article incorporates material from the National Institute of Neurological Disorders and Stroke document "Congenital Myopathy Information Page" at http://www.ninds.nih.gov/disorders/myopathy_congenital/myopathy_congenital.htm As a work of an agency of the U.S. Government without any other copyright notice it should be available as a public domain resource.


Template:WikiDoc Sources