Arthrogryposis Multiplex Congenita Distal Type 1

Common Name(s)

Arthrogryposis Multiplex Congenita Distal Type 1

In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Classically, DA was defined as being without overt neurologic or muscle disease ({14:Lin et al., 1977} and {10:Hall et al., 1982}), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction ({17:Robinson et al., 2007}; {16:Mokbel et al., 2013}; {7:Davidson et al., 2013}). The prototypic distal arthrogryposis is type 1 (DA1), which is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected. While the pattern of affected joints is consistent, the degree to which the joints are affected is highly variable, with equinovarus deformities ranging from mild to severe and hand involvement ranging from isolated hypoplasia of the distal interphalangeal crease of the fifth digit to severely clenched fists and ulnar deviation of the wrist. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by {3:Bamshad et al., 2009}). {2:Bamshad et al. (1996)} revised the classification by {10:Hall et al. (1982)} of the common mendelian arthrogryposis syndromes. {12:Krakowiak et al. (1997)} provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal Arthrogryposes Distal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B ({614335}), caused by mutation in the MYBPC1 gene ({160794}) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene ({160720}) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene ({600692}) on chromosome 11p15.5, the TNNI2 gene ({191043}), also on 11p15.5, or TPM2 ({190990}) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 ({108145}), caused by mutation in the PIEZO2 gene ({613629}) on chromosome 18p11; DA4 ({609128}); DA5D ({615065}), caused by mutation in the ECEL1 gene ({605896}) on chromosome 2q36; DA6 ({108200}); DA7 ({158300}), caused by mutation in the MYH8 gene ({160741}) on chromosome 17p13.1; DA8 ({178110}), caused by mutation in the MYH3 gene ({160720}) on chromosome 17p13; DA9 ({121050}), caused by mutation in the FBN2 gene ({612570}) on chromosome 5q23-q31; and DA10 ({187370}), which maps to chromosome 2q. See {277720} for discussion of a possible autosomal recessive form of DA2A. See {208155} for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle. There are other forms of arthrogryposis multiplex congenita (AMC), including a lethal congenital form (see LCCS1, {253310}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita Distal Type 1" for support, advocacy or research.

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

Last Updated: 11 Jul 2011

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Arthrogryposis Multiplex Congenita Distal Type 1" for support, advocacy or research.

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Freeman-Sheldon Research Group, Inc.

The mission of the Freeman-Sheldon Research Group, Inc. (FSRG) is to provide a Judeo-Christian faith-based setting (1) to improve the quality of life of individuals with Freeman-Sheldon (FSS), Sheldon-Hall syndromes (SHS), and related entities by furthering research, clinical care, advocacy, and education for families, professionals, and the wider lay community; (2) for education and training in the health sciences; and (3) to facilitate fellowship and professional exchange concerning the above.

http://fsrgroup.org

Last Updated: 11 Jul 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
 

Status: Recruiting

Condition Summary: Freeman-Sheldon Syndrome; Arthrogryposis Distal Type 2A; Whistling Face Syndrome; Craniocarpotarsal Dysplasia; Craniocarpotarsal Dystrophy; Freeman-Sheldon Syndrome Variant; Sheldon-Hall Syndrome; Arthrogryposis Distal Type 2B; Gordon Syndrome; Arthrogryposis Distal Type 3; Arthrogryposis Distal Type 1; Arthrogryposis, Distal, Type 1A; Arthrogryposis Distal Type 1B; Arthrogryposis, Distal; Craniofacial Abnormalities; Arthrogryposis

 

Last Updated: 5 Apr 2017

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