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비정형 임상 양상을 보인 de novo BSCL2 Asn88Ser 변이 dHMN-5 환자: 진행 초기의 감별 진단의 어려움Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
- Other Titles
- Identification of de novo BSCL2 Asn88Ser Variant with Atypical Presentation of Distal Hereditary Motor Neuropathy Type 5: Clinical Challenge in Diagnosis of Motor Neuron Diseases
- Issue Date
- Feb-2025
- Publisher
- 대한신경과학회
- Keywords
- Distal hereditary motor neuropathy; type V; BSCL2; Amyotrophic lateral sclerosis
- Citation
- 대한신경과학회지, v.43, no.1, pp 35 - 39
- Pages
- 5
- Indexed
- KCI
- Journal Title
- 대한신경과학회지
- Volume
- 43
- Number
- 1
- Start Page
- 35
- End Page
- 39
- ISSN
- 1225-7044
2288-985X
- Abstract
- Diagnosing amyotrophic lateral sclerosis (ALS) is challenging and requires distinguishing it from conditions like distal hereditary motor neuropathy type 5 (dHMN-V). A 21-year-old female initially diagnosed with ALS showed progressive upper limb weakness extending to the lower limbs. Trio exome sequencing revealed a de novo pathogenic Berardinelli- Seip congenital lipodystrophy 2 variant (c.263A>G, p.Asn88Ser), confirming dHMN-V. Minipolymyoclonus of small amplitudes in bilateral wrists and ankles was an atypical presentation. This case underscores the importance of considering dHMN-V as a differential diagnosis in ALS-like distal upper extremity weakness.
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Collections - 서울 의과대학 > 서울 신경과학교실 > 1. Journal Articles
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Related Researcher
- Kim, Seung Hyun
- 서울 의과대학 (DEPARTMENT OF NEUROLOGY)