Autosomal recessive spinocerebellar ataxia 20 (SCAR20) is a recently described disorder characterized by intellectual disability, ataxia, coarse facial features, progressive loss of Purkinje cells in the cerebellum and often hearing loss and skeletal [ncbi.nlm.nih.gov]

They may also have difficulty with movements that involve judging distance or scale ( dysmetria ). Other features of ARCA1 include abnormal eye movements ( nystagmus ) and problems following the movements of objects with their eyes. [en.wikipedia.org]

There is a broad-based gait, scanning dysarthria, explosive speech, intention tremor, dysdiadochokinesia, dysmetria and abnormalities of eye movements. There may be movement disorders. [patient.info]

They may also have difficulty with movements that involve judging distance or scale (dysmetria). Other features of ARCA1 include abnormal eye movements (nystagmus) and problems following the movements of objects with the eyes. [ghr.nlm.nih.gov]

Neurological examination revealed bilateral plantar extensor responses, abolished Achilles reflexes, and finger to nose dysmetria. [karger.com]

A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

18p11.22-q11.2 Spinocerebellar ataxia (SCA29) OMIM #117360 Early onset, nonprogressive ataxia Vermian hypoplasia -- 18p11.22-q11.2 Spinocerebellar ataxia(SCA30) OMIM #613371 Dysarthria Lower limb hyperreflexia Hypermetric saccades -- 4q34.3-q35.1 [emedicine.medscape.com]

Typical clinical signs and symptoms of autosomal dominant ataxias (ADCA) include the following: Limb and truncal ataxia Hyperreflexia and spasticity (pyramidal signs) are commonly found in patients with SCA1 and SCA3 Cognitive impairment has been reported [centogene.com]

Clinical examination showed an ataxic gait, with appendicular dysmetria, and patellar and ankle hyperreflexia. Muscle tone and strength were preserved. [oatext.com]

Neurological examination showed normal strength in all extremities, hypertonia in his legs, and hyperreflexia with Babinski signs bilaterally. Limb ataxia and severe gait ataxia were present with an inability to walk. [jmg.bmj.com]

Neurological examination showed normal mental status, an upbeat nystagmus, saccadic pursuit eye movements, and cerebellar dysarthria. At inspection fasciculations were present in the forearms, hands, and legs. [jmg.bmj.com]

[…] cholestanol levels (if CTX is suspected) Third tier (rarer genetic conditions typically seen in a younger cohort with ataxia and other symptoms such as dystonia, peripheral neuropathy, visceral involvement and cognitive impairment): peripheral blood smear for acanthocytes [practicalneurology.com]

Extensive laboratory investigation of acanthocytes, cholesterol, triglycerid, low density lipoproteins, very low density lipoproteins, lactate, pyruvate, thyroid function, vitamin E, lysosomal enzymes, copper and ceruloplasmin, alpha-fetoprotein, and [jmg.bmj.com]