Arthrogryposis, Distal, Type 1a; Da1a

Description

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 (Lin et al., 1977 and Hall et al., 1982), although more recent evidence suggests that DA1A due to TPM2 mutations results from muscle dysfunction (Robinson et al., 2007; Mokbel et al., 2013; 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 Bamshad et al., 2009).Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. Krakowiak et al. (1997) provided a useful classification of the distal arthrogryposes. Genetic Heterogeneity of Distal ArthrogryposesDistal arthrogryposis type 1 includes DA1A, caused by mutation in the TPM2 gene, and DA1B (OMIM ), caused by mutation in the MYBPC1 gene (OMIM ) on chromosome 12q23.2. Other forms include DA2A (Freeman-Sheldon syndrome, {193700}), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13.1; DA2B (Sheldon-Hall syndrome, {601680}), caused by mutation in MYH3, the TNNT3 gene (OMIM ) on chromosome 11p15.5, the TNNI2 gene (OMIM ), also on 11p15.5, or TPM2 (OMIM ) on chromosome 9p13; DA3 (Gordon syndrome, {114300}) and DA5 (OMIM ), caused by mutation in the PIEZO2 gene (OMIM ) on chromosome 18p11; DA4 (OMIM ); DA5D (OMIM ), caused by mutation in the ECEL1 gene (OMIM ) on chromosome 2q36; DA6 (OMIM ); DA7 (OMIM ), caused by mutation in the MYH8 gene (OMIM ) on chromosome 17p13.1; DA8 (OMIM ), caused by mutation in the MYH3 gene (OMIM ) on chromosome 17p13; DA9 (OMIM ), caused by mutation in the FBN2 gene (OMIM ) on chromosome 5q23-q31; and DA10 (OMIM ), 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}).

Clinical Features

Top most frequent phenotypes and symptoms related to Arthrogryposis, Distal, Type 1a; Da1a

  • Scoliosis
  • Muscle weakness
  • Cryptorchidism
  • Flexion contracture
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly
  • Hip dislocation
  • Arthrogryposis multiplex congenita
  • Abnormality of the foot

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Arthrogryposis, Distal, Type 1a; Da1a Is also known as arthrogryposis multiplex congenita, distal, type i, da1, amcd1, arthrogryposis, distal, type 1.

Researches and researchers

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Arthrogryposis, Distal, Type 1a; Da1a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Myopathy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, TRIM32, CFL2, CNTN1, MEGF10, DNM2, KLHL40, KBTBD13, MTM1, MYBPC3, MYH2, MYH7 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Neuromuscular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, SLC25A4, SUCLA2, SUCLG1, TWNK, TCAP, TIA1, TK2, TNNI2, TNNT1, TPM2, TPM3, MYOT , (...)

View the complete list with 124 more genes
Specificity
1 %
Genes
100 %
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
Comprehensive Neuromuscular Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, RYR2, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCE, SGCG, TCAP, TNNI2, TNNT1, TPM2, TPM3, MYOT, TTN, VCP, VRK1, ACTA1, CAPN3 , (...)

View the complete list with 59 more genes
Specificity
2 %
Genes
100 %
Congenital Muscular Myopathy.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR1, BIN1, TNNT1, TPM2, TPM3, ACTA1, SELENON, CFL2, CNTN1, DNM2, KBTBD13, MTM1, MYF6, MYH7, NEB
Specificity
7 %
Genes
100 %
Neuromuscular Disorders Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, SGCA, SGCB, SGCD, SGCG, SNAP25, STIM1, SYT2, TCAP, TNNT1, TNXB, TPM2, TPM3, MYOT, TTN, VCP, ACTA1, RXYLT1 , (...)

View the complete list with 91 more genes
Specificity
1 %
Genes
100 %
Congenital Myopathy Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

RYR1, BIN1, SCN4A, TNNT1, TPM2, TPM3, TTN, ACTA1, CCDC78, SELENON, SPEG, KLHL41, CFL2, CHKB, CNTN1, COL12A1, STAC3, MEGF10, DNM2, KLHL40 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Distal Arthrogryposis Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

TNNI2, TNNT3, TPM2, NALCN, CHST14, PIEZO2, ECEL1, FBN2, MYBPC1, MYH3, MYH8
Specificity
10 %
Genes
100 %

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Sources and references

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