At age 10 years, he was admitted to our neurogenetic clinic. On clinical examination, a wide-based ataxic gait with mild intention tremor, dysarthria, and oculomotor apraxia were noted.

Cerebellar findings included at least one of the following: ataxic gait, cerebellar dysarthria, cerebellar oculomotor findings or limb ataxia.

Recessive mutations in POLR3A exhibit considerable phenotypic diversity, spanning from severe childhood-onset hypomyelinating leukodystrophic syndrome to less severe gait disorders, which may present ...

During a trek last year, Anshul Bhatt realised that the family’s eleven-and-a-half-year-old Labrador, Max, was in severe ...

Nearly three decades after the final episode of his beloved TV show aired, the Science Guy hasn’t lost his way. In fact, in ...

The primary clinical manifestations include ataxia, gait instability, dysarthria, dysphagia, ocular movement disorders, and nystagmus. HA is classified based on inheritance patterns into autosomal ...

Abstract We report on the genetic analysis of a Chinese family in which four male patients presented with postlingual progressive hearing loss, associated with distal muscle wasting and unsteady ...

He had been working for the past 12 years in a factory making battery plates. He presented with history of abnormal behaviour and unsteadiness of gait for 8 days accompanied by colicky abdominal pain ...

Sutherland and Davids 5 described four pathological gait patterns based on knee motion in the sagittal plane: jump, recurvatum, crouch and stiff knee. Rodda et al. 6 classified the gait patterns in ...

Ataxia and apraxia can both occur due to conditions that cause lesions on the brain, including tumors, brain injuries, and serious neurological disorders, such as multiple sclerosis.