A New Distal Arthrogryposis Syndrome Characterized by Plantar Flexion Contractures

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2006 Nov 15

PMID 17103435

Citations 6

Authors

D A Stevenson

K J Swoboda

R K Sanders

M Bamshad

Affiliations

Soon will be listed here.

Abstract

The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different body areas. More than a decade ago, we revised the classification of DAs and distinguished several new syndromes. This revision has facilitated the identification of five genes (i.e., TNNI2, TNNT3, MYH3, MYH8, and TPM2) that encode components of the contractile apparatus of fast-twitch myofibers and cause DA syndromes. We now report on the phenotypic features of a novel DA disorder characterized primarily by plantar flexion contractures in a large five-generation Utah family. Contractures of hips, elbows, wrists, and fingers were much milder though they varied in severity among affected individuals. All affected individuals had normal neurological examinations; electromyography and creatinine kinase levels were normal on selected individuals. We have tentatively labeled this condition distal arthrogryposis type 10 (DA10).

Citing Articles

Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.

Dabaj I, Carlier R, Dieterich K, Desguerre I, Faure J, Romero N Front Genet. 2023; 13:955041.

PMID: 36968005 PMC: 10034368. DOI: 10.3389/fgene.2022.955041.

Distal Arthrogryposis and Lethal Congenital Contracture Syndrome - An Overview.

Desai D, Stiene D, Song T, Sadayappan S Front Physiol. 2020; 11:689.

PMID: 32670090 PMC: 7330016. DOI: 10.3389/fphys.2020.00689.

AMC: amyoplasia and distal arthrogryposis.

Kimber E J Child Orthop. 2015; 9(6):427-32.

PMID: 26537820 PMC: 4661149. DOI: 10.1007/s11832-015-0689-1.

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.

Li X, Zhong B, Han W, Zhao N, Liu W, Sui Y PLoS One. 2015; 10(2):e0117158.

PMID: 25679999 PMC: 4332675. DOI: 10.1371/journal.pone.0117158.

Low force contractions induce fatigue consistent with muscle mRNA expression in people with spinal cord injury.

Petrie M, Suneja M, Faidley E, Shields R Physiol Rep. 2014; 2(2):e00248.

PMID: 24744911 PMC: 3966256. DOI: 10.1002/phy2.248.

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