Spinal muscular atrophy with lower extremity predominance associated with BICD2 mutation： A case report
10.19845/j.cnki.zfysjjbzz.2026.0013
- VernacularTitle:BICD2基因新型突变致下肢为主型脊髓性肌萎缩2型1例报告
- Author:
Juan WANG
1
;
Pan HUANG
1
Author Information
1. Department of Neurology， Deyang People’s Hospital， Deyang 618000， China
- Publication Type:Journal Article
- Keywords:
Spinal muscular atrophy with lower extremity predominance;
Electromyography examination;
Genetic testing;
BICD2
- From:
Journal of Apoplexy and Nervous Diseases
2026;43(1):76-80
- CountryChina
- Language:Chinese
-
Abstract:
Spinal muscular atrophy （SMA） is characterized by muscle atrophy and weakness caused by degeneration of the anterior horn cells of the spinal cord， and spinal muscular atrophy with lower extremity predominance （SMALED） accounts for less than 2% of all SMA cases.Due to the rarity of the disease and varying severities of its clinical phenotype， misdiagnosis or missed diagnosis is often observed in clinical practice. In this case， a male patient aged 19 years was admitted due to “weakness in both lower limbs for more than 2 years and aggravation for more than 2 months”. Neurophysical examination showed low muscle strength and muscle atrophy of lower limbs， with negative pathological signs or sensory disorders. Electromyography examination revealed neurogenic damage in both lower limbs， and the clinical and electrophysiological features of the patient were consistent with the features of SMALED. Genetic testing revealed BICD2 gene mutation， and the patient was diagnosed with SMALED2. There was no aggravation of clinical symptoms at follow-up half a year later. This case report aims to improve the understanding and diagnosis of this disease among clinicians.
- Full text:2026020510215946434BICD2基因新型突变致下肢为主型脊髓性肌萎缩2型1例报告.pdf
