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
- Author:
Hyunkee KIM
1
;
Jung Hyun LEE
;
Dongju WON
;
Jong Rak CHOI
;
Ha Young SHIN
;
Seung Hyun KIM
Author Information
- Publication Type:Case Report
- From:Journal of the Korean Neurological Association 2025;43(1):35-39
- CountryRepublic of Korea
- Language:Korean
- 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.
