Hip Dysplasia in Charcot–Marie–Tooth Disease: Insights From a Large Cohort of Children and Adolescents

IF 3.9 3区医学 Q1 CLINICAL NEUROLOGY Journal of the Peripheral Nervous System Pub Date : 2025-01-31 DOI:10.1111/jns.70002

Khian Aun Tan, Monique M. Ryan, Rachel A. Kennedy, Kate Carroll, Katy de Valle, Carrie M. Kollias, Eppie M. Yiu

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Abstract

Background and Aims

Despite the known association of hip dysplasia and Charcot Marie Tooth disease (CMT), evidence is limited regarding its exact prevalence. Available studies pre-date genetic confirmation of CMT subtypes and current hip reconstruction surgical options. This study examined the prevalence of hip dysplasia in CMT in a tertiary neuromuscular center.

Methods

This was a retrospective study of children with CMT who had at least one pelvic radiograph between 2000 and 2020. Reimer's migration percentage, acetabular index and lateral center edge angle were used to identify hip dysplasia.

Results

A total of 178 children were included with a median age of 6.4 (IQR 3.4–11.3) years at CMT diagnosis. First pelvic radiographs were performed at a median age of 8.0 (IQR 4.6–12.2) years and 64 (35.8%) had hip dysplasia, of which 20 normalized over time. Repeat radiographs were done in 96/178 children (53.9%), and six children with originally normal radiographs developed later radiographic hip dysplasia. At the time of last follow up, 50/178 children (28.1%) had hip dysplasia and 17/178 children (9.6%) required surgical intervention. The frequency of hip dysplasia in specific CMT subtypes was: 28/100 in CMT1A, 5/7 in Dejerine-Sottas disease, 3/10 in CMT2A, and 4/4 in TRPV4-related CMT.

Interpretation

The prevalence of hip dysplasia in children with CMT in this cohort was estimated to be between 9.6% and 28.1%. Serial imaging is important to monitor outcomes into adulthood. Specific CMT subtypes were more likely to be associated with hip dysplasia.

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来源期刊

Journal of the Peripheral Nervous System 医学-临床神经学

CiteScore

6.10

自引率

7.90%

发文量

审稿时长

>12 weeks

期刊介绍： The Journal of the Peripheral Nervous System is the official journal of the Peripheral Nerve Society. Founded in 1996, it is the scientific journal of choice for clinicians, clinical scientists and basic neuroscientists interested in all aspects of biology and clinical research of peripheral nervous system disorders. The Journal of the Peripheral Nervous System is a peer-reviewed journal that publishes high quality articles on cell and molecular biology, genomics, neuropathic pain, clinical research, trials, and unique case reports on inherited and acquired peripheral neuropathies. Original articles are organized according to the topic in one of four specific areas: Mechanisms of Disease, Genetics, Clinical Research, and Clinical Trials. The journal also publishes regular review papers on hot topics and Special Issues on basic, clinical, or assembled research in the field of peripheral nervous system disorders. Authors interested in contributing a review-type article or a Special Issue should contact the Editorial Office to discuss the scope of the proposed article with the Editor-in-Chief.