Laing distal myopathy

Revision as of 18:59, 14 October 2012 by Prashanthsaddala (talk | contribs)
(diff) ← Older revision | Latest revision (diff) | Newer revision → (diff)
Jump to navigation Jump to search

WikiDoc Resources for Laing distal myopathy

Articles

Most recent articles on Laing distal myopathy

Most cited articles on Laing distal myopathy

Review articles on Laing distal myopathy

Articles on Laing distal myopathy in N Eng J Med, Lancet, BMJ

Media

Powerpoint slides on Laing distal myopathy

Images of Laing distal myopathy

Photos of Laing distal myopathy

Podcasts & MP3s on Laing distal myopathy

Videos on Laing distal myopathy

Evidence Based Medicine

Cochrane Collaboration on Laing distal myopathy

Bandolier on Laing distal myopathy

TRIP on Laing distal myopathy

Clinical Trials

Ongoing Trials on Laing distal myopathy at Clinical Trials.gov

Trial results on Laing distal myopathy

Clinical Trials on Laing distal myopathy at Google

Guidelines / Policies / Govt

US National Guidelines Clearinghouse on Laing distal myopathy

NICE Guidance on Laing distal myopathy

NHS PRODIGY Guidance

FDA on Laing distal myopathy

CDC on Laing distal myopathy

Books

Books on Laing distal myopathy

News

Laing distal myopathy in the news

Be alerted to news on Laing distal myopathy

News trends on Laing distal myopathy

Commentary

Blogs on Laing distal myopathy

Definitions

Definitions of Laing distal myopathy

Patient Resources / Community

Patient resources on Laing distal myopathy

Discussion groups on Laing distal myopathy

Patient Handouts on Laing distal myopathy

Directions to Hospitals Treating Laing distal myopathy

Risk calculators and risk factors for Laing distal myopathy

Healthcare Provider Resources

Symptoms of Laing distal myopathy

Causes & Risk Factors for Laing distal myopathy

Diagnostic studies for Laing distal myopathy

Treatment of Laing distal myopathy

Continuing Medical Education (CME)

CME Programs on Laing distal myopathy

International

Laing distal myopathy en Espanol

Laing distal myopathy en Francais

Business

Laing distal myopathy in the Marketplace

Patents on Laing distal myopathy

Experimental / Informatics

List of terms related to Laing distal myopathy

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

Synonyms and keywords: Distal myopathy type 1; Laing early-onset distal myopathy; MPD1.

Overview

Laing distal myopathy is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

Pathophysiology

The pathological features vary, although atrophic type I muscle fibres are found in half the patients. MPD1 is transmitted as an autosomal dominant trait. It is caused by mutation of the MYH7 gene (14q11) that encodes the myosin heavy chain of type 1 fibers of skeletal muscle and cardiac ventricles (mutations have been identified in approximately 50% of individuals with MPD1).

Differentiating Laing distal myopathy from other Diseases

Differential diagnoses include milder congenital myopathies (central core disease and centronuclear myopathy) and distal myopathies (Udd distal myopathy, Nonaka distal myopathy, Markesbery-Griggs distal myopathy) (see these terms). Genetically related (allelic) disorders are familial hypertrophic cardiomyopathy 1 and myosin storage myopathy, however, the clinical picture of MPD1 is distinct from that of these conditions.

Epidemiology and Demographics

MPD1 is rare, the prevalence is unknown. Age at onset varies from 4 to 5 years to the early twenties.

Diagnosis

  • The disease initially involves the dorsiflexors of the ankles and great toes and then the finger extensors, especially those of the third and fourth fingers.
  • Early weakness of neck flexion is present in all patients.
  • Mild involvement of the facial musculature (particularly of the orbicularis oculi and oris muscles) is often present. Mild proximal weakness develops more than ten years after the onset of the disease.
  • Diagnosis is based on clinical findings.
  • The pathological findings are variable.
  • Serum creatine kinase concentration is usually normal but is sometimes increased by up to 3-fold.
  • Electromyographic findings are nonspecific, muscle biopsy is not diagnostic.
  • Molecular genetic testing is available on a research basis only. \
  • Prenatal testing may be available for families in which the disease-causing mutation has been identified in an affected family member.

Treatment

References

Template:WH Template:WS