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PMID: 42504314 已发表 · epublish 英语

The Association Between Charcot-Marie-Tooth Disease and Developmental Dysplasia of the Hip: A Narrative Review.

Orthopedic reviews ·第 18 卷

Alnowaishiri KA, AlMutairi LO, AlQarni RA, Alshaikhi RO, Asiri AY, Ganbou ZT, Alghamdi AA, Alamoud AAA, AlQahtani MS, AlQarni A

摘要

Charcot-Marie-Tooth (CMT) disease, a condition comprising a variety of inherited peripheral neuropathies, is marked by progressive degeneration of motor and sensory nerves. The current review examines the link between CMT and developmental dysplasia of the hip (DDH), characterized by abnormal hip joint development. Although the frequency of DDH among CMT patients has been under-investigated, the musculoskeletal complications of CMT (including weakness and abnormal gait) may predispose individuals to hip dysplasia. This narrative review compiles data from 11 publications selected from a systematic search of PubMed and Web of Science. The criteria included established diagnosis of CMT and DDH in patients aged less than 14 years, English language, and availability of full text. This review examined patient characteristics, genetics, diagnosis, and treatment. Research demonstrates a high incidence of hip dysplasia among CMT patients, with some studies reporting 22% in clinical series. Patterns of diagnosis differ among subtypes, with earlier onset of Type-1 CMT. This link is influenced by genetic factors, such as duplication of the PMP22 gene, and family studies show vertical transmission. Diagnosis includes physical examination, X-rays and genetic analysis. Early intervention, including non-surgical and surgical treatment in severe cases, is crucial to management. The link between CMT and DDH highlights the importance of awareness and screening in at-risk groups. Appropriate screening and management algorithms can enhance quality of life. Additional epidemiological and genetic studies are needed to improve diagnostic and treatment strategies.

关键词
Charcot-Marie-Tooth Disease Congenital Hip Dislocation Genetic Predisposition Musculoskeletal Diseases Peripheral System Diseases
文献信息
期刊
Orthopedic reviews
期刊简称
Orthop Rev (Pavia)
ISSN
2035-8164
语言
英语
国家/地区
United States
NLM ID
101524779
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