비정형 임상 양상을 보인 de novo BSCL2 Asn88Ser 변이 dHMN-5 환자: 진행 초기의 감별 진단의 어려움

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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

Authors: Hyunkee Kim ; Jung Hyun Lee ; Dongju Won ; Jong Rak Cho I ; Ha Young Shin ; Seung Hyun Kim

Citation: Journal of the Korean Neurological Association, Vol.43(1) : 35-39, 2025-02

Keywords: Distal hereditary motor neuropathy ; type V ; BSCL2 ; Amyotrophic lateral sclerosis

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