Chen Shuling, Li Siyu, Liu Ying, She Renyi, Jiang Wei
Department of Rehabilitation, Children's Hospital of Chongqing Medical University, Chongqing, China.
Front Hum Neurosci. 2023 Jul 17;17:1198309. doi: 10.3389/fnhum.2023.1198309. eCollection 2023.
The diagnosis and treatment of cerebellar atrophy remain challenging owing to its nonspecific symptoms and laboratory indicators. Three patients with spinocerebellar ataxia type 8 caused by were found among the 16 people in the studied family. The clinical manifestations of the patients included progressive spastic paraplegia of the lower extremities, mild ataxia, mild cognitive impairment, and cerebellar atrophy. After administering antispasmodic rehabilitation treatment, using oral drugs, botulinum toxin injection, baclofen pump, and other systems in our hospital, the patients' lower extremity spasticity was significantly relieved. To our knowledge, till date, this is the first domestic report of spinocerebellar ataxia type 8 affecting a family, caused by with spasticity onset in early childhood. Manifestations of the disease included spastic dyskinesia (in early disease stages) and cerebellar atrophy. Through systematic rehabilitation, the daily life of patients with this movement disorder was improved. This case report adds to the literature on spinocerebellar ataxia type 8 by summarizing its features.
由于小脑萎缩的症状和实验室指标缺乏特异性,其诊断和治疗仍然具有挑战性。在所研究的家族中的16人中发现了3例由[具体病因未给出]引起的8型脊髓小脑共济失调患者。患者的临床表现包括进行性下肢痉挛性截瘫、轻度共济失调、轻度认知障碍和小脑萎缩。在我院采用口服药物、肉毒毒素注射、巴氯芬泵等系统进行抗痉挛康复治疗后,患者下肢痉挛明显缓解。据我们所知,这是国内首例关于8型脊髓小脑共济失调影响一个家族的报道,由[具体病因未给出]引起,痉挛在儿童早期发病。该疾病的表现包括痉挛性运动障碍(在疾病早期)和小脑萎缩。通过系统康复,改善了这种运动障碍患者的日常生活。本病例报告通过总结其特征,丰富了关于8型脊髓小脑共济失调的文献。