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Items: 6

1.

Episodic ataxia type 2

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007). For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). [from OMIM]

MedGen UID:
314039
Concept ID:
C1720416
Disease or Syndrome
2.

Autosomal recessive spinocerebellar ataxia 10

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014). [from OMIM]

MedGen UID:
462348
Concept ID:
C3150998
Disease or Syndrome
3.

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive adult-onset, slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy (summary by Szmulewicz et al., 2011). [from OMIM]

MedGen UID:
482853
Concept ID:
C3281223
Disease or Syndrome
4.

Spinocerebellar ataxia 27B, late-onset

Late-onset spinocerebellar ataxia-27B (SCA27B) is an autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). About half of patients present with episodic features. The disorder is slowly progressive, and some patients may lose independent ambulation. Additional features include downbeat and horizontal nystagmus, diplopia, vertigo, and dysarthria. Brain imaging tends to show cerebellar atrophy (Pellerin et al., 2023). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

MedGen UID:
1824051
Concept ID:
C5774278
Disease or Syndrome
5.

Spinocerebellar ataxia 45

A rare autosomal dominant cerebellar ataxia with characteristics of slowly progressive late-onset gait and limb ataxia, dysarthria and variable nystagmus. Brain imaging reveals cerebellar atrophy. [from SNOMEDCT_US]

MedGen UID:
1622156
Concept ID:
C4540400
Disease or Syndrome
6.

Downbeat nystagmus

Downbeat nystagmus is a type of fixation nystagmus with the fast phase beating in a downward direction. It generally increases when looking to the side and down and when lying prone. [from HPO]

MedGen UID:
154401
Concept ID:
C0585544
Finding; Finding
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