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Arthrogryposis multiplex congenita
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Description
Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. A contracture occurs when a joint becomes permanently fixed in a bent or straightened position, which can impact the function and range of motion of the joint and may lead to muscle atrophy. AMC is not a specific diagnosis, but rather a physical symptom that can be associated with many different medical conditions. It is suspected that AMC is related to decreased fetal movement during development which can have a variety of different causes, including environmental factors (i.e. maternal illness, limited space), single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes. Treatment varies based on the signs and symptoms found in each person, but may include physical therapy, removable splints, exercise, and/or surgery.
External Information
Click here for more information about the Arthrogryposis multiplex congenita genetic test.Additional information
Samples | EDTA, LA, TB, VC |
---|---|
Method of testing | NGS |
Turnaround Time (TAT) | 30-40 days |
Number of Genes | 75 |
Genes / Chromosomes / SNPs | ABCC8, ACTA1, ADCY6, AGRN, AIMP1, ALG3, ASCC1, AUTS2, CACNA1E, CFL2, CHAT, CHRNA1, CHRNE, CHRNG, CHST14, DHCR24, DOK7, ERBB3, ERCC1, ERCC2, ERCC5, ERCC6, FAM20C, FBN2, FKBP10, GBA, GBE1, GCK, GFPT1, GLE1, HSPG2, HYMAI, INS, ITGA6, ITGB4, KAT6B, KBTBD13, KCNJ11, KIF1A, LMNA, MAGEL2, MECP2, MUSK, MYBPC1, MYH3, MYH8, MYPN, NEB, PDX1, PHGDH, PIEZO2, PIP5K1C, PLEC, PLOD2, PSAT1, PSMB8, RAPSN, RFT1, SLC5A7, SLC9A6, SOX10, STAT3, SYNE1, SYT2, TNNI2, TPM2, TPM3, TRPV4, TSEN54, UBA1, VIPAS39, VPS33B, ZFP57, ZMPSTE24, ZNF335 |
Related diseases | Ortopedia, Pediatria |
External Information | Click here for more information about the Arthrogryposis multiplex congenita genetic test. |