Diseases & Conditions
Giant Axonal Neuropathy
Synonyms of Giant Axonal Neuropathy
General Discussion
Giant axonal neuropathy is a rare hereditary motor and sensory neuropathy (HSMN) that severely affects the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and mental retardation. Pale, tightly curled hair is frequently seen in those affected. Giant axonal neuropathy follows autosomal recessive genetic inheritance.
Organizations related to Giant Axonal Neuropathy
For a Complete Report
- GAN
Disorder Subdivisions
General Discussion
Giant axonal neuropathy is a rare hereditary motor and sensory neuropathy (HSMN) that severely affects the central nervous system. The first symptoms appear in early childhood. This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and mental retardation. Pale, tightly curled hair is frequently seen in those affected. Giant axonal neuropathy follows autosomal recessive genetic inheritance.
Organizations related to Giant Axonal Neuropathy
- Hannah's Hope Fund for Giant Axonal Neuropathy, Inc.
19 Blue Jay Way
Rexford NY 12148
Phone #: 518-383-9053
800 #: N/A
e-mail: mattsames@yahoo.com; lorisames@yahoo.com
Home page: http://www.hannahshopefund.org - MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/ - March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains NY 10605
Phone #: 914-428-7100
800 #: 888-663-4637
e-mail: Askus@marchofdimes.com
Home page: http://www.marchofdimes.com - Muscular Dystrophy Canada
900-2345 Yonge Street
Ontario Intl M4P 2E5
Phone #: 416--48-8-0030
800 #: (86-6)--MUSCLE-8
e-mail: info@muscle.ca
Home page: http://www.muscle.ca - National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
Bethesda MD 20892-2540
Phone #: 301-496-5751
800 #: 800-352-9424
e-mail: braininfo@ninds.nih.gov
Home page: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). 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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