Journal article
Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges
Muscle & nerve, Vol.57(5), pp.749-755
05/2018
DOI: 10.1002/mus.25981
PMCID: PMC5886823
PMID: 28981955
Abstract
ABSTRACT\nIntroduction\nThis study analyzes and describes atypical presentations of Charcot–Marie–Tooth disease type 4C (CMT4C).\nMethods\nWe present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2.\nResults\nAll patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients.\nDiscussion\nA new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. Muscle Nerve 57: 749–755, 2018
Details
- Title: Subtitle
- Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges
- Creators
- Nivedita U Jerath - University of FloridaAmi Mankodi - Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthThomas O Crawford - Johns Hopkins UniversityChristopher Grunseich - Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthHasna Baloui - Karolinska InstitutetChioma Nnamdi‐Emeratom - Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthAlice B Schindler - Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, National Institutes of HealthTerry Heiman‐Patterson - Drexel University College of MedicineRoman Chrast - Karolinska InstitutetMichael E Shy - University of Iowa Carver College of Medicine
- Resource Type
- Journal article
- Publication Details
- Muscle & nerve, Vol.57(5), pp.749-755
- DOI
- 10.1002/mus.25981
- PMID
- 28981955
- PMCID
- PMC5886823
- ISSN
- 0148-639X
- eISSN
- 1097-4598
- Number of pages
- 7
- Grant note
- Muscular Dystrophy Association\nCharcot–Marie–Tooth Association\nSwedish Strategic Research Area Neuroscience program\nOffice of Rare Diseases (U54NS065712)\nNational Institute of Neurological Disorders and Stroke\nClinical Research Training Grant
- Language
- English
- Date published
- 05/2018
- Academic Unit
- Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
- Record Identifier
- 9984070815402771
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