Dysarthria, and Gait ataxia

Diseases related with Dysarthria and Gait ataxia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 45; SCA45

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

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

Other less relevant matches:

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

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Spinocerebellar ataxia type 26 (SCA26) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive cerebellar signs (gait ataxia) and eye movement abnormalities.

SPINOCEREBELLAR ATAXIA TYPE 26 Is also known as sca26

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Cerebellar atrophy


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 26

SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018).

Related symptoms:

  • Ataxia
  • Dysarthria
  • Dysphagia
  • Cerebellar atrophy
  • Gait ataxia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 48; SCA48

Top 5 symptoms//phenotypes associated to Dysarthria and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Limb ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Tremor Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Hyperreflexia Dysmetria Seizures Abnormal cerebellum morphology Progressive cerebellar ataxia Peripheral neuropathy Motor delay

Rare Symptoms - Less than 30% cases

Action tremor Scanning speech Truncal ataxia Intention tremor Babinski sign Dysmetric saccades Gaze-evoked nystagmus Atonic seizures Sensory impairment Sensory axonal neuropathy Sensory neuropathy Unsteady gait Cerebellar vermis atrophy Intellectual disability Delayed speech and language development Abnormality of eye movement Generalized myoclonic seizures Paralysis Functional motor deficit Neurological speech impairment Broad-based gait Paraparesis Spastic paraparesis Dysdiadochokinesis Vertical supranuclear gaze palsy Progressive gait ataxia Urinary incontinence Pontocerebellar atrophy Abnormality of ocular smooth pursuit Impaired horizontal smooth pursuit Generalized tonic-clonic seizures Mental deterioration Anxiety Incoordination Fasciculations Neuronal loss in central nervous system Cerebellar hypoplasia Dementia Myoclonus Generalized hyperreflexia Difficulty walking Dysphagia Postural tremor Absence seizures Sensory ataxic neuropathy Downbeat nystagmus Hyporeflexia Intellectual disability, moderate Abnormality of the eye Postural instability Delayed gross motor development Saccadic smooth pursuit Distal sensory impairment Polyneuropathy Slow saccadic eye movements Sensory ataxia Positive Romberg sign Square-wave jerks Status epilepticus Lower limb hyperreflexia Hypermetric saccades Cognitive impairment Abnormal pyramidal sign Impaired smooth pursuit Head tremor Gaze-evoked horizontal nystagmus Limb tremor Global developmental delay Autism EEG abnormality Autistic behavior Agoraphobia


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