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Genetics Home Reference: your guide to understanding genetic conditions
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Distal arthrogryposis type 1

Reviewed January 2011

What is distal arthrogryposis type 1?

Distal arthrogryposis type 1 is a disorder characterized by joint deformities (contractures) that restrict movement in the hands and feet. The term "arthrogryposis" comes from the Greek words for joint (arthro-) and crooked or hooked (gryposis). The characteristic features of this condition include permanently bent fingers and toes (camptodactyly), overlapping fingers, and a hand deformity in which all of the fingers are angled outward toward the fifth finger (ulnar deviation). Clubfoot, which is an inward- and upward-turning foot, is also commonly seen with distal arthrogryposis type 1. The specific hand and foot abnormalities vary among affected individuals. However, this condition typically does not cause any signs and symptoms affecting other parts of the body.

How common is distal arthrogryposis type 1?

Distal arthrogryposis type 1 affects an estimated 1 in 10,000 people worldwide.

What genes are related to distal arthrogryposis type 1?

Distal arthrogryposis type 1 can be caused by mutations in at least two genes: TPM2 and MYBPC1. These genes are active (expressed) in muscle cells, where they interact with other muscle proteins to help regulate the tensing of muscle fibers (muscle contraction). It is unclear how mutations in the TPM2 and MYBPC1 genes lead to the joint abnormalities characteristic of distal arthrogryposis type 1. However, researchers speculate that contractures may be related to problems with muscle contraction that limit the movement of joints before birth.

In some cases, the genetic cause of distal arthrogryposis type 1 is unknown. Researchers are looking for additional genetic changes that may be responsible for this condition.

Related Gene(s)

Changes in these genes are associated with distal arthrogryposis type 1.

  • MYBPC1
  • TPM2

How do people inherit distal arthrogryposis type 1?

This condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In many cases, a person with distal arthrogryposis type 1 has a parent and other close family members with the condition.

Where can I find information about diagnosis or management of distal arthrogryposis type 1?

These resources address the diagnosis or management of distal arthrogryposis type 1 and may include treatment providers.

  • American Academy of Orthopedic Surgeons: Treatment for Clubfoot (http://orthoinfo.aaos.org/topic.cfm?topic=A00255)
  • Genetic Testing Registry: Arthrogryposis multiplex congenita distal type 1 (http://www.ncbi.nlm.nih.gov/gtr/conditions/C0220662)
  • Merck Manual for Health Care Professionals (http://www.merckmanuals.com/professional/pediatrics/congenital_craniofacial_and_musculoskeletal_abnormalities/arthrogryposis_multiplex_congenita.html)

You might also find information on the diagnosis or management of distal arthrogryposis type 1 in Educational resources (http://www.ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1/show/Educational+resources) and Patient support (http://www.ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1/show/Patient+support).

General information about the diagnosis (http://ghr.nlm.nih.gov/handbook/consult/diagnosis) and management (http://ghr.nlm.nih.gov/handbook/consult/treatment) of genetic conditions is available in the Handbook. Read more about genetic testing (http://ghr.nlm.nih.gov/handbook/testing), particularly the difference between clinical tests and research tests (http://ghr.nlm.nih.gov/handbook/testing/researchtesting).

To locate a healthcare provider, see How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

Where can I find additional information about distal arthrogryposis type 1?

You may find the following resources about distal arthrogryposis type 1 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for distal arthrogryposis type 1?

  • AMCD1
  • arthrogryposis, distal, type 1
  • DA1

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines (http://ghr.nlm.nih.gov/ConditionNameGuide) and How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What if I still have specific questions about distal arthrogryposis type 1?

Ask the Genetic and Rare Diseases Information Center (http://rarediseases.info.nih.gov/GARD/).

What glossary definitions help with understanding distal arthrogryposis type 1?

arthrogryposis ; autosomal ; autosomal dominant ; camptodactyly ; cell ; clubfoot ; contraction ; distal ; expressed ; gene ; inherited ; joint ; muscle cells ; sarcomere ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Bamshad M, Bohnsack JF, Jorde LB, Carey JC. Distal arthrogryposis type 1: clinical analysis of a large kindred. Am J Med Genet. 1996 Nov 11;65(4):282-5. (http://www.ncbi.nlm.nih.gov/pubmed/8923936?dopt=Abstract)
  • Bamshad M, Jorde LB, Carey JC. A revised and extended classification of the distal arthrogryposes. Am J Med Genet. 1996 Nov 11;65(4):277-81. Review. (http://www.ncbi.nlm.nih.gov/pubmed/8923935?dopt=Abstract)
  • Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2. (http://www.ncbi.nlm.nih.gov/pubmed/20045868?dopt=Abstract)
  • Sung SS, Brassington AM, Grannatt K, Rutherford A, Whitby FG, Krakowiak PA, Jorde LB, Carey JC, Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet. 2003 Mar;72(3):681-90. (http://www.ncbi.nlm.nih.gov/pubmed/12592607?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2011
Published: December 22, 2014