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Compound heterozygous mutation of MUSK causing fetal akinesia deformation sequence syndrome: A case report

World Journal of Clinical Cases 2019年第21期7卷 3655-3661页

作者： Na Li Chong Qiao Yuan Lv Tian Yang Hao Liu Wen-Qian Yu Cai-Xia Liu Department of Obstetrics and Gynecology Shengjing Hospital of China Medical UniversityShenyang 110004Liaoning ProvinceChina Key Laboratory of Maternal-Fetal Medicine of Liaoning Province Key Laboratory of Obstetrics and Gynecology of Higher Education of Liaoning ProvinceShenyang 110004Liaoning ProvinceChina

BACKGROUND Fetal akinesia deformation sequence(FADS)is a broad spectrum disorder with absent fetal movements as the unifying feature.The etiology of FADS is heterogeneous and mostly still unknown.A prenatal diagnosis of FADS relies on clinical features obtained by ultrasound and fetal muscle pathology.However,the recent advances of next-generation sequencing(NGS)can effectively provide a definitive molecular diagnosis.CASE SUMMARY A fetus presented after 24 wk and 6 d of gestation with absent fetal movements and multiple abnormal ultrasonographic signs.The mother had had a previous abortion due to a similarly affected fetus a year before.A clinical diagnosis of FADS was made.The parents refused cord blood examination and chose abortion.A molecular diagnosis of fetal muscle using NGS of genes found a compound heterozygous mutation in the MUSK gene:c.220C>T(chr9:113449410 p.R74W)and c.421delC(chr9:113457745 p.P141fs).CONCLUSION To our knowledge,this is the first report in China showing that a mutation in MUSK is associated with FADS.This supports previous finding that a lethal mutation of MUSK will cause FADS.A precise molecular diagnosis for genetic counseling and options for a prenatal diagnosis of FADS are very important,especially for recurrent FADS;this may also provide evidence for both prenatal and preimplantation genetic diagnoses.

关键词： MUSK gene Fetal akinesia deformation sequence Joint contractures Casereport

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The Role of Orthotic Service in Modern Rehabilitation of Patients with Charcot-Marie-Tooth Disease

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Journal of Biosciences and Medicines 2018年第7期6卷 23-34页

作者： Olga V. Petryaeva Natalia A. Shnayder Ivan P. Artyukhov Margarita R. Sapronova Irina O. Loginova V.F. Voyno-Yasenetsky Krasnoyarsk State Medical University Krasnoyarsk Russia V.M. Bechterev National Medical Research Center of Psychiatry and Neurology Sankt-Petersburg Russia

Charcot-Marie-Tooth (CMT) disease, which encompasses several hereditary motor and sensory neuropathies, is one of the most common neuro-muscular disorders. 80% of patients having CMT disease are diagnosed with per cavus deformity. Orthosis is widespread and varies widely in forms. The paper arises the necessity of habilitation at the earliest possible stage as only a few patients use it. The meta-analysis of 412 scientific papers concerning this problem demonstrates the getting better gate, balance and the stopping CMT progression which is scientifically proven. It is also shown that patients with CMT use low prevalence of orthotics, and demonstrate low compliance of patients (for various reasons), high expectations from this habilitation technique.

关键词： Charcot-Marie-Tooth Disease (CMT) Habilitation Rehabilitation Heredi-tary Sensori-Motor Neuropathies (HSMN) contractures Orthosis Demye-linating Diseases (DMD) Orthotic Management Ankle-Foot Orthoses (AFOs)

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