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Arthrogryposis Multiplex Congenita (AMC)

Autosomal RecessiveX-LinkedAutosomal DominantMitochondrialSystemic/Multisystem
W
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Overview

From WUSTL Neuromuscular

General aspects Clinical features Associated disorders & syndromes Treatment & prognosis Neurogenic Syndromes + Myopathy Syndromes ± Myopathy Recessive Arthrogryposis Multiplex Congenita (AMC) 1: LGI4 2: ERGIC1 3: SYNE1 4: SCYL2 (Corpus callosum agenesis) 5: TOR1A 6: NEB 7: THOC2 AMC: CACNA1H Arthropathy-Camptodactyly: PRG4 Cerebellar & Pancreatic Aplasia: PTF1A COFS: ERCC6 Distal arthrogryposis 5D: ECEL1; 2q37 KFS4: MYO18B; 22q12 Ectodermal dysplasia Emery-Dreifuss MD 4: SYNE1 Fetal Akinesia Deformation Sequence (FADS) 1: MuSK 2: RAPSYN 3: DOK7 4: NUP88 Jarcho-Levin: DLL3 Lethal congenital co

Related Conditions

Shared genes
Axon: Transport
NUDELJNKSYNAPTIC
HEREDITARY MOTOR SENSORY NEUROPATHIES (HMSN; CMT)
DIFCMT1ATP6

External Resources

WUSTL Neuromuscular
Washington University Disease Center
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.