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Items: 4

1.

Spinocerebellar atrophy

Atrophy affecting the cerebellum and the spinocerebellar tracts of the spinal cord. [from HPO]

MedGen UID:
39733
Concept ID:
C0087012
Disease or Syndrome
2.

Huntington chorea

Huntington disease (HD) is a progressive disorder of motor, cognitive, and psychiatric disturbances. The mean age of onset is 35 to 44 years and the median survival time is 15 to 18 years after onset. [from GeneReviews]

MedGen UID:
5654
Concept ID:
C0020179
Disease or Syndrome
3.

Spinocerebellar ataxia 11

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy, and dystonia are seen on occasion. Four families have been reported to date: one each from the UK, France, Germany, and Pakistan. In them, age of onset ranged from the early teens to the mid 20s. Life span is normal. [from GeneReviews]

MedGen UID:
346799
Concept ID:
C1858351
Disease or Syndrome
4.

Spinocerebellar ataxia 15

Spinocerebellar ataxia type 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor, mild hyperreflexia, gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain. Onset is between ages seven and 72 years, usually with gait ataxia but sometimes with tremor. Affected individuals remain ambulatory for ten to 54 years after symptom onset. Mild dysphagia usually after two or more decades of symptoms has been observed in members of multiple affected families and movement-induced oscillopsia has been described in one member of an affected family. [from GeneReviews]

MedGen UID:
338301
Concept ID:
C1847725
Disease or Syndrome
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