Cognitive impairment, and Gait ataxia

Diseases related with Cognitive impairment and Gait ataxia

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


Top matches:

Medium match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium 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

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Other less relevant matches:

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

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

Medium match SPINOCEREBELLAR ATAXIA 48; SCA48


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

Medium match SPINOCEREBELLAR ATAXIA TYPE 14


Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Medium match SPINOCEREBELLAR ATAXIA TYPE 21


Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Neoplasm


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Medium match SPINOCEREBELLAR ATAXIA TYPE 23


Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Medium match SPINOCEREBELLAR ATAXIA 19; SCA19


SPINOCEREBELLAR ATAXIA 19; SCA19 Is also known as sca22|spinocerebellar ataxia 22

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 19; SCA19

Top 5 symptoms//phenotypes associated to Cognitive impairment and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Progressive cerebellar ataxia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Limb ataxia

Uncommon Symptoms - Between 30% and 50% cases


Seizures Myoclonus Babinski sign Hyperreflexia Action tremor Dysmetria Peripheral neuropathy Rigidity Postural tremor Cerebellar vermis atrophy Nystagmus

Rare Symptoms - Less than 30% cases


Truncal ataxia Cogwheel rigidity Mental deterioration Intermittent microsaccadic pursuits Akinesia Dysphagia Abnormality of eye movement Sensory neuropathy Dementia Head tremor Hyporeflexia Scanning speech Gaze-evoked nystagmus Abnormal pyramidal sign Gaze-evoked horizontal nystagmus Slow saccadic eye movements Ophthalmoplegia Resting tremor Intellectual disability, severe Impulsivity Clumsiness Parkinsonism Apathy Behavioral abnormality Fasciculations Aggressive behavior Abnormality of extrapyramidal motor function Diplopia Peripheral demyelination Dysgraphia Microsaccadic pursuit Agenesis of corpus callosum Pes cavus Polyneuropathy Neuronal loss in central nervous system Global developmental delay Sensorimotor neuropathy Impaired vibratory sensation Impaired vibration sensation in the lower limbs Impaired proprioception CNS demyelination Kinetic tremor Impaired distal vibration sensation Horizontal nystagmus Neoplasm Spasticity Intellectual disability Cerebellar hypoplasia Anxiety Atonic seizures Sensory axonal neuropathy Generalized myoclonic seizures Generalized tonic-clonic seizures Difficulty walking Limb tremor Agoraphobia Dysmetric saccades Impaired smooth pursuit Intention tremor Motor delay Hypertonia Abnormality of movement Urinary incontinence Generalized hypotonia Generalized limb muscle atrophy Distal amyotrophy Atrophy of the spinal cord Distal lower limb muscle weakness Motor axonal neuropathy Progressive spastic paraplegia Spastic gait Lower limb spasticity Paraplegia Sensory impairment Spastic paraplegia Abnormality of the skeletal system Gait disturbance Skeletal muscle atrophy Abnormality of the Achilles tendon Saccadic smooth pursuit Hyporeflexia of lower limbs Urinary urgency



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