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Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care
Univ Grenoble Alpes, GIN, U1216, INSERM, Grenoble, France;CHU Grenoble Alpes, Genet Med, Grenoble, France.
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. Uppsala Univ, Dept Womens & Childrens Hlth, Childrens Hosp, Uppsala, Sweden;Univ Gothenburg, Queen Silvia Childrens Hosp, Inst Clin Sci, Dept Paediat, Gothenburg, Sweden.
Univ British Columbia, Dept Pediat & Med Genet, Vancouver, BC, Canada.
2019 (English)In: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, ISSN 1552-4868, E-ISSN 1552-4876, Vol. 181, no 3, p. 345-353Article, review/survey (Refereed) Published
Abstract [en]

Arthrogryposis or AMC, arthrogryposis multiplex congenita, is defined as multiple congenital joint contractures in more than two joints and in different body areas. The common cause of all AMC is lack of movement in utero, which in turn can have different causes, one of which is CNS involvement. Intellectual disability/CNS involvement is found in approximately 25% of all AMC. AMC with CNS involvement includes a large number of genetic syndromes. So far, more than 400 genes have been identified as linked to AMC, with and without CNS involvement. A number of neonatally lethal syndromes and syndromes resulting in severe disability due to CNS malfunction belong to this group of syndromes. There are several X-linked disorders with AMC, which are primarily related to intellectual disability. A number of neuromuscular disorders may include AMC and CNS/brain involvement. Careful clinical evaluation by a geneticist and a pediatrician/pediatric neurologist is the first step in making a specific diagnosis. Further investigations may include MRI of the brain and spinal cord, electroencephalogram, blood chemistry for muscle enzymes, other organ investigations (ophtalmology, cardiology, gastrointestinal, and genitourinary systems). Nerve conduction studies, electromyogram, and muscle pathology may be of help when there is associated peripheral nervous system involvement. But most importantly, genetic investigations with targeted or rather whole exome or genome sequencing should be performed. A correct diagnosis is important in planning adequate treatment, in genetic counselling and also for future understanding of pathogenic mechanisms and possible new treatments. A multidiciplinary team is needed both in investigation and treatment.

Place, publisher, year, edition, pages
WILEY , 2019. Vol. 181, no 3, p. 345-353
Keywords [en]
arthrogryposis multiplex congenita, neonatally lethal AMC syndromes, central nervous system involvement, multi-organ involvement, intellectual disability
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:uu:diva-396179DOI: 10.1002/ajmg.c.31732ISI: 000481225200001PubMedID: 31410997OAI: oai:DiVA.org:uu-396179DiVA, id: diva2:1366857
Available from: 2019-10-31 Created: 2019-10-31 Last updated: 2019-10-31Bibliographically approved

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