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Myopathy, Congenital, Batten Turner Type

Synonyms of Myopathy, Congenital, Batten Turner Type

  • Batten Turner Congenital Myopathy
  • Batten Turner Syndrome

Disorder Subdivisions

  • No subdivisions found.

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.

Related Disorders

Symptoms of the following disorders can be similar to those of Batten Turner Type Congenital Myopathy. Comparisons may be useful for a differential diagnosis:

Congenital Hypotonia is a nonprogressive neuromuscular disorder which is present at birth. This condition is characterized by decreased muscle tone or floppiness with no known cause or may be a symptom of another disorder. Newborns with this disorder have muscle weakness and generalized weakness. In many cases the symptoms improve as the child ages. (For more information on this disorder, choose "Hypotonia" as your search term in the Rare Disease Database.)

Werdnig-Hoffmann Disease is a rare inherited neuromuscular disorder of childhood characterized by generalized muscle weakness and the progressive loss of muscle mass (atrophy). Symptoms may also include hypermobility of the joints, absent tendon reflexes, and rapid twitching (fasciculations) of the tongue. Werdnig-Hoffman Disease is a progressive disorder and affected children may develop breathing problems or kidney impairment. (For more information on this disorder, choose "Werdnig-Hoffman" as your search term in the Rare Disease Database.)

Canavan's Leukodystrophy is a rare inherited disorder that is characterized by the progressive degeneration of the central nervous system. The early symptoms of this disorder include a general lack of energy, floppiness, and the loss of previously acquired motor skills. Symptoms appear in early infancy and are rapidly progressive. Other symptoms may include jerky motions of the arms and legs, poor head control, and/or hearing loss. (For more information on this disorder, choose "Canavan's Leukodystrophy" as your search term in the Rare Disease Database.)

Congenital Hypotonia may occur in association with many other disorders. Generalized muscle weakness and floppiness may be symptoms of these disorders. A variety of other symptoms or unusual facial or physical characteristics may also occur. These other disorders include, but are not limited to, Congenital Hypomyelination Neuropathy, Aicardi Syndrome, Cri du Chat Syndrome, Multiple Carboxylase Deficiency, De Barsy Syndrome, Down's Syndrome, FG Syndrome, Neonatal Herpes, Non-Ketotic Hyperglycinemia, and Tay- Sachs Disease. For a listing of diseases associated with muscle weakness in newborn children and information on these disorders, choose "Hypotonia" as your search term in the Rare Disease Database.)

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:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Myopathy, Congenital, Batten Turner Type Resources

Organizations:

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.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/04 00:00:00 GMT+0

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