Myopathy, Congenital, Batten Turner Type

Myopathy, Congenital, Batten Turner Type

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Myopathy, Congenital, Batten Turner Type is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Batten Turner Congenital Myopathy
  • Batten Turner Syndrome

Disorder Subdivisions

  • None

General Discussion

Batten Turner Type Congenital Myopathy is an extremely rare, inherited muscle disease (myopathy) and is characterized by the lack of muscle tone or floppiness at birth (congenital hypotonia). The symptoms of Batten Turner Type Congenital Myopathy are slowly progressive during infancy and childhood. However, this disorder is not progressive in adulthood.

Symptoms

The first symptoms of Batten Turner Type Congenital Myopathy in a newborn are the slow, progressive loss of muscle tone characterized by floppiness (hypotonia) and general weakness. Early motor skills and other important developmental milestones may be slightly delayed. Toddlers with this disorder usually have mild muscle weakness and may be prone to falling or stumbling. The muscles of the pelvis, neck, and shoulder area are most commonly affected. Since the symptoms of this disease are not progressive during adulthood, most people with Batten Turner Type Congenital Myopathy walk normally as adults. However, some physical activities may be slightly impaired.

Causes

Batten Turner Type Congenital Myopathy is inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

Affected Populations

Batten Turner Type Congenital Myopathy is an extremely rare disorder that affects males and females in equal numbers. The symptoms of this disorder are most obvious during infancy and childhood. Nine cases of Batten Turner Type Congenital Myopathy have been described in the medical literature. Six of these cases were reported in one family.

Standard Therapies

Adults with Batten Turner Type Congenital Myopathy should be encouraged to get adequate exercise and to avoid obesity. Affected adults may experience episodes of mild muscle weakness, but generally there are no major physical disabilities.

Investigational Therapies

Research on genetic disorders and their causes is ongoing. The National Institutes of Health (NIH) is sponsoring the Human Genome Project which is aimed at mapping every gene in the human body and learning why they sometimes malfunction. It is hoped that this new knowledge will lead to prevention and treatment of genetic disorders in the future.



Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



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For information about clinical trials sponsored by private sources, contact:

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References

TEXTBOOKS

Adams RD, Victor M., eds. Principles of Neurology. 5th Edition. McGraw Hill Co., NY. 1993:1248.



Wyngaarden JB, Smith LH Jr., eds. Cecil Textbook of Medicine. 19th Edition. W.B. Saunders Co., Philadelphia, PA; 1992:2256.



Magalini SI, Magalini SC, De Francisci,, eds. Dictionary of Medical Syndromes. 3rd Edition. J.B. Lippincott Co., Philadelphia, PA. 1990:78.



JOURNAL ARTICLES

Batten FE. Three cases of myopathy, infantile type. Brain. 1903;26:147-48.



Batten FE. The myopathies or muscular dystrophies: a critical review. Quart J Med. 1910;3:313-28.



Turner JWA. On myotonia congenita. Brain. 1949;72:25-34.



Turner JWA, Lees F. Congenital Myopathy/a fifty-year follow-up. Brain. 1962;85:733-40.



Zellweger H, Afifi A, McCormick WF, et al. Benign congenital muscular dystrophy: a special form of congenital hypotonia. Clin Pediatr (Phila). 1967;6:655-63.



FROM THE INTERNET

McKusick VA, ed. Online Mendelian Inheritance In Man (OMIM). The Johns Hopkins University. Myopathy, Congenital. Entry Number; 255300: Last Edit Date; 3/18/2004.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801

Bethesda, MD 20824

Tel: (301)496-5751

Fax: (301)402-2186

Tel: (800)352-9424

TDD: (301)468-5981

Internet: http://www.ninds.nih.gov/



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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