A very rare disease with characteristics of adult-onset unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SNOMEDCT-BE (disorder) / 734020000

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syndrome d'ataxie spinocérébelleuse-dysmorphie

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Spinocerebellar ataxia dysmorphism syndrome

SNOMEDCT-BE (disorder) / 733033001

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ataxie spinocérébelleuse type 36

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Costa de Morte ataxia

SNOMEDCT-BE (disorder) / 711158005

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ataxie spinocérébelleuse type 8

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Main features described as cerebellar ataxia and cognitive dysfunction in almost three quarters of patients and pyramidal and sensory signs in approximately a third of patients. Other features include dysexecutive disorders and commonly psychiatric d

SNOMEDCT-BE (disorder) / 715753001

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ataxie spinocérébelleuse type 38

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Disease with characteristics of the adult-onset (average age 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplo

SNOMEDCT-BE (disorder) / 734021001

SNOMEDCT-BE (average age 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplo / 734021001

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ataxie spinocérébelleuse type 27

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Disease with characteristics of early-onset tremor, dyskinesia and slowly progressive cerebellar ataxia. Fewer than 30 cases have been reported to date. This disease is caused by a mutation in the fibroblast growth factor 14 FGF14 gene (13q34). Progn

SNOMEDCT-BE (disorder) / 719252002

SNOMEDCT-BE (13q34). Progn / 719252002

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ataxie spinocérébelleuse type 14

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A rare disease with manifestations of slowly progressive ataxia, dysarthria and nystagmus. The disease has been reported in more than twenty families from Europe, the United States, and Australia. Onset is usually in early adulthood while symptomatic

SNOMEDCT-BE (disorder) / 719210007

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ataxie spinocérébelleuse type 26

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A very rare subtype of autosomal dominant cerebellar ataxia type 3 with characteristics of late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from on

SNOMEDCT-BE (disorder) / 718769009

SNOMEDCT-BE (gait ataxia) and eye movement abnormalities. To date, only 23 affected patients have been described from on / 718769009

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ataxie spinocérébelleuse type 34

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Disease with characteristics of papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes. Reported in 25 members of one French

SNOMEDCT-BE (disorder) / 719255000

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ataxie spinocérébelleuse infantile

Date index:2022-06-16 -

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