MCT8-specific thyroid hormone cell transporter deficiency

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report MCT8-specific thyroid hormone cell transporter deficiency 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

  • AHDS
  • MCT8-THCT deficiency
  • Allan-Herndon-Dudley syndrome
  • Allan-Herndon syndrome
  • mental retardation, X-linked, with hypotonia
  • THCT deficiency

Disorder Subdivisions

  • None

General Discussion

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities.

With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about two months of age, affected infants may seem weak and have an inability to hold up the head. Due to hypotonia, severely reduced motor development, and other abnormalities, affected children very rarely develop any ability to walk and when they do, it is with shuffling gait. Associated features often include underdevelopment (hypoplasia) and wasting (atrophy) of muscle tissue; weakness and stiffness of the legs (spastic paraplegia) with exaggerated reflexes (hyperreflexia); relatively slow, involuntary, purposeless, commonly dyskinetic (abnormal movement) attacks. Writhing movements (athetoid movements); and/or other movement abnormalities are less common. Affected individuals may also have abnormalities of the skull and facial (craniofacial) region. THCT deficiency is an inherited as an X-linked genetic disorder.
.

Resources

WE MOVE (Worldwide Education and Awareness for Movement Disorders)
204 West 84th Street
New York, NY 10024
USA
Tel: (212)875-8312
Fax: (212)875-8389
Email: wemove@wemove.org
Internet: http://www.wemove.org

Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring, MD 20910
Tel: (301)565-3842
Fax: (301)565-3843
Tel: (800)433-5255
TDD: (817)277-0553
Email: info@thearc.org
Internet: http://www.thearc.org/

NIH/Nat'l Institute on Deafness & Other Communication Disorders Information Clearinghouse
1 Communication Ave
Bethesda, MD 20892-3456
Tel: (301)402-0900
Fax: (301)907-8830
Tel: (800)241-1044
TDD: (800)241-1105
Email: nidcdinfo@nidcd.nih.gov
Internet: http://www.nidcd.nih.gov

Thyroid Society for Education & Research
7515 S. Main
#545
Houston, TX 77030
Tel: (713)799-9909
Fax: (713)799-9919
Tel: (800)849-7643
Email: thyroid@neosoft.com
Internet: http://www.the-thyroid-society.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

For a Complete Report

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

related physicians

related services

Bon Secours International| Sisters of Bon Secours USA| Bon Secours Health System

This information does not replace the advice of a doctor. Healthwise disclaims any warranty or liability for your use of this information. Your use of this information means that you agree to the Terms of Use. Privacy Policy. How this information was developed to help you make better health decisions.