Ataxia, and Nystagmus

Diseases related with Ataxia and Nystagmus

In the following list you will find some of the most common rare diseases related to Ataxia and Nystagmus that can help you solving undiagnosed cases.


Top matches:

Low match ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME


Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25


Related symptoms:

  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Cerebellar hypoplasia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Low match SPINOCEREBELLAR ATAXIA 11; SCA11


Related symptoms:

  • Ataxia
  • Nystagmus
  • Hyperreflexia
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 11; SCA11

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Other less relevant matches:

Low match EPISODIC ATAXIA TYPE 5


Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours.

Related symptoms:

  • Ataxia
  • Dysarthria
  • Vertigo
  • Postural instability
  • Truncal ataxia


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 5

Low match SPINOCEREBELLAR ATAXIA 45; SCA45


Related symptoms:

  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 45; SCA45

Low match JOUBERT SYNDROME 27; JBTS27


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 27; JBTS27

Low match AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY


Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency is an extremely rare, autosomal recessive, hereditary cerebellar ataxia disorder characterized by early onset of progressive, mild to moderate gait and limb ataxia, moderate to severe dysarthria, and nystagmus or saccadic pursuit, frequently associated with epilepsy, moderate intellectual disability, delayed speech acquisition, and hyporeflexia in the upper extremities. Hyperreflexia in the lower extremities may also be associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY Is also known as autosomal recessive spinocerebellar ataxia type 15|scar15|salih ataxia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA-EPILEPSY-INTELLECTUAL DISABILITY SYNDROME DUE TO RUBCN DEFICIENCY

Low match SPINOCEREBELLAR ATAXIA 46; SCA46


SPINOCEREBELLAR ATAXIA 46; SCA46 Is also known as spinocerebellar ataxia, 46, autosomal dominant, with sensory axonal neuropathy

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 46; SCA46

Low match SPINOCEREBELLAR ATAXIA TYPE 30


Spinocerebellar ataxia type 30 (SCA30) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by a slowly progressive and relatively pure ataxia.

SPINOCEREBELLAR ATAXIA TYPE 30 Is also known as sca30

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 30

Low match SPINOCEREBELLAR ATAXIA 15; SCA15


SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly|spinocerebellar ataxia 16, formerly

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 15; SCA15

Top 5 symptoms//phenotypes associated to Ataxia and Nystagmus

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Limb ataxia Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Nystagmus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Truncal ataxia Gaze-evoked nystagmus Global developmental delay Abnormality of eye movement

Rare Symptoms - Less than 30% cases


Intellectual disability Progressive cerebellar ataxia Motor delay Abnormality of the eye Peripheral neuropathy Cerebellar vermis atrophy Postural instability Generalized hypotonia Cognitive impairment Cerebellar hypoplasia Dysmetria Impaired smooth pursuit Lower limb hyperreflexia Sensory axonal neuropathy Slow saccadic eye movements Sensory ataxia Positive Romberg sign Sensory ataxic neuropathy Gaze-evoked horizontal nystagmus Square-wave jerks Tremor Hypermetric saccades Abnormal pyramidal sign Dysmetric saccades Scanning speech Intention tremor Head tremor Action tremor Abnormal cerebellum morphology Postural tremor Sensory impairment Seizures Polyneuropathy Apraxia Microcephaly Growth delay Strabismus Congenital hip dislocation Oligodontia Delayed ability to walk Vertigo Downbeat nystagmus Oculomotor apraxia Sensory neuropathy Molar tooth sign on MRI Short stature Delayed speech and language development Hyporeflexia Intellectual disability, moderate Unsteady gait Delayed gross motor development Saccadic smooth pursuit Distal sensory impairment Limb tremor



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