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The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature

Forskningsöversiktsartikel
Författare Klaus Dieterich
Pauline Le Tanno
Eva Kimber
Pierre Simon Jouk
Judith Hall
Philip Giampietro
Publicerad i American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volym 181
Nummer/häfte 3
Sidor 337-344
ISSN 1552-4868
Publiceringsår 2019
Publicerad vid Institutionen för kliniska vetenskaper, Avdelningen för pediatrik
Sidor 337-344
Språk en
Länkar doi.org/10.1002/ajmg.c.31730
Ämnesord AMC, arthrogryposis multiplex congenita, diagnosis, genetic investigations, next generation sequencing
Ämneskategorier Medicinsk genetik

Sammanfattning

© 2019 Wiley Periodicals, Inc. Arthrogryposis multiplex congenita, or AMC, is a clinical sign defined as congenital contractures of at least two joint levels. These joint contractures are always secondary to diminished fetal movement which can have numerous causes that affect any part of the anatomical structures implicated in movement: the central nervous system, the anterior horn cell, the nerve, the neuromuscular junction, the muscle, or the joint itself. Make a precise diagnosis of the cause in a patient with multiple joint contractures is therefore challenging. The aim of this article is to summarize the use and diagnostic value of common examinations and analyses performed postnatally in patients affected by AMC from a literature review. We also compare this data with results from our clinical practice. Even though it is difficult to give precise guidelines today, it appears that genetic studies, such as whole exome or genome analysis in all patients and chromosomal microarray analysis in patients with intellectual disability and AMC should be preferred as first tier investigations over EMG and muscle biopsy.

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