Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect (AMCNMY)

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OMIM 57 617468 MeSH 44 D001176

MedGen 42 C4479539 CN243956

UniProtKB/Swiss-Prot : ⁷⁴ Arthrogryposis multiplex congenita, neurogenic, with myelin defect: A form of arthrogryposis multiplex congenita, a developmental condition characterized by multiple joint contractures resulting from reduced or absent fetal movements. AMCNMY is an autosomal recessive severe form with onset in utero. Most affected individuals die in utero. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect.

MalaCards based summary : Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect, is also known as amcnmy. An important gene associated with Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect is LGI4 (Leucine Rich Repeat LGI Family Member 4). Related phenotypes are seizures and pulmonary hypoplasia

OMIM : ⁵⁷ AMCNMY is an autosomal recessive severe neurologic disorder with onset in utero. Most affected individuals die in utero or are subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect (summary by Xue et al., 2017). (617468)

Clinical features from OMIM:

617468

Search Clinical Trials , NIH Clinical Center for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect

Search GEO for disease gene expression data for Arthrogryposis Multiplex Congenita, Neurogenic, with Myelin Defect.