Spinocerebellar Ataxia Type 13
Symptoms progress slowly; appendicular ataxia, dysmetria, dysdiadochokinesia, and cerebellar or mixed dysarthria (cerebellar and bulbar) appear at later stages. 14–16,22,23[elsevier.es]
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.com]
[…] features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis Spinocerebellar ataxia[emedicine.com]
Autosomal Recessive Spinocerebellar Ataxia 8
Examination was notable for moderate dysarthria, hypermetric saccades and axial appendicular ataxia.[mdsabstracts.org]
Symptoms progress slowly; appendicular ataxia, dysmetria, dysdiadochokinesia, and cerebellar or mixed dysarthria (cerebellar and bulbar) appear at later stages. 14–16,22,23[elsevier.es]
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.medscape.com]
Progressive Myoclonic Epilepsy Type 8
Relatives initially noted appendicular ataxia at the age of 1‐year, followed by a progressive delay in developmental milestones, particularly in language.[onlinelibrary.wiley.com]
Neurological exam disclosed dysarthria, truncal and appendicular ataxia, bilateral horizonto‐torsional nystagmus, choreoatethoic movements in his fingers, slight dystonic[onlinelibrary.wiley.com]
Not described Not described Not described Not described Truncal and appendicular ataxia Gait impairement Wheelchair‐bound Unable to walk without support Not described Not[onlinelibrary.wiley.com]
Spinocerebellar Ataxia Type 19
appendicular ataxia.[scielo.br]
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.medscape.com]
The patient's mother died in Japan, at the age of 70 years old, presenting gait ataxia for more than ten years.[scielo.br]
Adult-Onset Autosomal Recessive Cerebellar Ataxia
[…] progressive over weeks to months and stabilized within 6 months • The majority had both truncal and appendicular ataxia Brain (2003), 126, 1409 1418 66.[slideshare.net]
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.medscape.com]
Clinical features of cerebellar disease Ataxia (appendicular or axial) Dysmetria Dyssynergia Dysdiadochokinesia Rebound Phenomenon Dysarthria Tremor Titubation[slideshare.net]
Spinocerebellar Ataxia Type 10
appendicular ataxia.[scielo.br]
The patient's mother died in Japan, at the age of 70 years old, presenting gait ataxia for more than ten years.[scielo.br]
Neurological examination showed bilateral horizontal gaze-evoked nystagmus, ocular dysmetria and dysarthria; severe gait ataxia associated with less prominent truncal and[scielo.br]
Spinocerebellar Ataxia Type 1
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.com]
[…] features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis Spinocerebellar ataxia[emedicine.com]
Spinocerebellar Ataxia Type 23
30 See the list below: Clinical features Age of onset - 42-76 years (mean is 52 y) Relatively pure, slowly progressing gait and appendicular ataxia Dysarthria Lower limb[emedicine.medscape.com]
[…] features Nonprogressive ataxia Nystagmus Dysarthria Psychomotor display Clumsiness Cognitive impairment Frequent falling early in disease Dysdiadochokinesis Spinocerebellar ataxia[emedicine.medscape.com]
Spinocerebellar Ataxia Type 5
[…] in the impairment of both appendicular and axial motor control.[movementdisorders.org]
Degenerative cerebellar ataxias (CAs) are a group of disorders associated with progressive degeneration of the cerebellum, and its afferent and efferent pathways, resulting[movementdisorders.org]
Machado-Joseph Disease
Background Machado-Joseph disease is the most frequent dominant ataxia worldwide. Despite its frequency and presence in many populations, only 2 founder mutations have been suggested to explain its current geographic distribution. Objectives To trace back in history the main mutational events in Machado-Joseph[…][doi.org]