Cognitive impairment, and Dysmetria

Diseases related with Cognitive impairment and Dysmetria

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

Top matches:

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

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25; SCAR25

Other less relevant matches:

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 12

Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

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

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

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

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA; CIAT

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

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Top 5 symptoms//phenotypes associated to Cognitive impairment and Dysmetria

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Progressive cerebellar ataxia Hyperreflexia Peripheral neuropathy Babinski sign Dementia Sensory neuropathy Seizures Nystagmus Global developmental delay Action tremor

Rare Symptoms - Less than 30% cases

Limb ataxia Sensory axonal neuropathy Sensorimotor neuropathy Impaired vibratory sensation Impaired proprioception Abnormality of eye movement Intellectual disability Limb dysmetria Broad-based gait Intention tremor Mental deterioration Truncal ataxia Gait disturbance Abnormality of movement Abnormal pyramidal sign Cerebellar hypoplasia Myoclonus Pes cavus Agenesis of corpus callosum Esophoria Slow saccadic eye movements Neuronal loss in central nervous system Peripheral demyelination Cerebellar vermis atrophy Gaze-evoked nystagmus Impaired vibration sensation in the lower limbs Emotional lability Dysmetric saccades Polyneuropathy Kinetic tremor Head tremor Slurred speech Abnormality of the eye Abnormality of extrapyramidal motor function Intellectual disability, mild Diplopia Optic nerve hypoplasia Horizontal nystagmus Dysdiadochokinesis CNS demyelination Delayed speech and language development Spasticity Progressive gait ataxia Strabismus Hypometric saccades Impaired distal vibration sensation Sensory impairment Motor delay Distal sensory impairment Amblyopia Generalized myoclonic seizures Hypertonia Delayed ability to walk Behavioral abnormality Cerebral atrophy Unsteady gait Abnormal cerebellum morphology Parkinsonism Bradykinesia Postural tremor Hypokinesia Poor fine motor coordination Tremor by anatomical site Difficulty walking Generalized tonic-clonic seizures Atonic seizures Attention deficit hyperactivity disorder Muscle weakness Areflexia Hyporeflexia Poor speech Impaired smooth pursuit Motor axonal neuropathy Motor deterioration Absent Achilles reflex Impaired tactile sensation Dysphagia Anxiety Urinary incontinence Agoraphobia Hyperactivity Jerky ocular pursuit movements


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