Raval Darshankumar M, Rathod Vaishnavi M, Dobariya Riya K, Dave Milauni P, Patel Nilay S
Department of General Medicine, Sir Sayajirao General Hospital and Medical College Baroda, Vadodara, IND.
Cureus. 2022 Sep 6;14(9):e28831. doi: 10.7759/cureus.28831. eCollection 2022 Sep.
Ataxia is a syndrome of imbalance and incoordination, categorized as hereditary ataxias, degenerative ataxias (non-hereditary), and acquired ataxias. Hereditary ataxia is further classified based on its mode of inheritance. Here, we have reported a case of early-onset autosomal recessive cerebellar ataxia with retained reflexes in a young male with positive family history. A young male presented with ten years history of tremors in both hands and head, aggravated with work and relieved with rest, and imbalance while walking, which has now progressed to the level where the patient cannot walk without support. The patient's younger brother also had a similar history. Central nervous system examination revealed cerebellar ataxia with retained reflexes. After ruling out other causes of ataxia in this age group by investigations, we could make the diagnosis of early-onset cerebellar ataxia with retained tendon reflexes (autosomal recessive). Presenting as a disease of variable presentation, the important diagnostic cues are classification and localization of ataxia. The investigations should be focusing on those cases of ataxias that are treatable. Family history is important to identify hereditary ataxias, as well as in genetic counselling of the affected patients.
共济失调是一种失衡和不协调的综合征，分为遗传性共济失调、退行性共济失调（非遗传性）和获得性共济失调。遗传性共济失调根据其遗传方式进一步分类。在此，我们报告了一例有家族史阳性的年轻男性早发性常染色体隐性小脑共济失调且反射保留的病例。一名年轻男性双手和头部震颤病史十年，工作时加重，休息时缓解，行走时失衡，目前已发展到患者无支撑无法行走的程度。患者的弟弟也有类似病史。中枢神经系统检查显示小脑共济失调且反射保留。通过检查排除该年龄组其他共济失调病因后，我们可诊断为早发性小脑共济失调伴腱反射保留（常染色体隐性）。作为一种表现多样的疾病，重要的诊断线索是共济失调的分类和定位。检查应聚焦于那些可治疗的共济失调病例。家族史对于识别遗传性共济失调以及对受影响患者进行遗传咨询很重要。
