Ataxia, and Paresthesia

Diseases related with Ataxia and Paresthesia

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


Top matches:

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Medium match ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY


Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Medium match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

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Other less relevant matches:

Medium match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Medium match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1


MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Medium match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Medium match ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME


Autosomal recessive spinocerebellar ataxia-21 is a neurologic disorder characterized by onset of cerebellar ataxia associated with cerebellar atrophy in early childhood. Affected individuals also have recurrent episodes of liver failure in the first decade, resulting in chronic liver fibrosis, as well as later onset of a peripheral neuropathy. Mild learning disabilities may also occur (summary by Schmidt et al., 2015).

ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME Is also known as spinocerebellar ataxia, autosomal recessive 21, with hepatopathy|autosomal recessive spinocerebellar ataxia type 21|scar21

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-CEREBELLAR ATAXIA-PERIPHERAL SENSORY MOTOR NEUROPATHY SYNDROME

Medium match AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT


Autosomal dominant optic atrophy and cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable severity, followed by a late anterior and/or posterior cortical cataract. Additional features include sensorineural hearing loss and neurological signs such as tremor, extrapyramidal rigidity and absence of deep tendon reflexes. ADOAC is caused by mutations in the OPA3 gene (19q13.32).

AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT Is also known as optic atrophy and cataract, autosomal dominant|opa3, autosomal dominant|autosomal dominant optic atrophy type 3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY AND CATARACT

Medium match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Top 5 symptoms//phenotypes associated to Ataxia and Paresthesia

Symptoms // Phenotype % cases
Gait ataxia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Sensory impairment Global developmental delay Nystagmus Migraine Hyporeflexia Spasticity Headache Hyperreflexia Confusion Hearing impairment Onion bulb formation Muscle weakness Cataract Edema Distal sensory impairment Cerebellar atrophy Frequent falls Mental deterioration Pain Intellectual disability, mild Hallucinations Visual hallucinations Hemiplegia Hemiparesis Abnormal cerebellum morphology Reduced visual acuity Blindness Fever Irritability Unsteady gait Choreoathetosis Dysarthria Episodic ataxia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Memory impairment Delusions Depressivity Generalized tonic-clonic seizures Behavioral abnormality Dyskinesia Gliosis Severe hearing impairment Neuronal loss in central nervous system Visual impairment Intellectual disability, moderate Impulsivity Personality changes Apathy Diplopia Rigidity Abnormal pyramidal sign Dysmetria Drowsiness Myoclonus Anxiety Cognitive impairment Motor delay Transient unilateral blurring of vision Migraine without aura Migraine with aura Blurred vision Dementia Dysphasia Aphasia Optic atrophy Gait disturbance Intention tremor Dystonia Coma Neurodegeneration Involuntary movements Cerebral atrophy Sensory ataxia Distal lower limb muscle weakness Dysesthesia Extrapyramidal muscular rigidity Paroxysmal dyskinesia Areflexia Pes cavus Distal muscle weakness Sensory neuropathy Decreased number of peripheral myelinated nerve fibers Falls Resting tremor Myopathy Anterior subcapsular cataract Hypoglycorrhachia Deviation of the 2nd finger Generalized tonic-clonic seizures without focal onset Hepatomegaly Language impairment Skeletal muscle atrophy Visual field defect Reduced tendon reflexes Recurrent infections Encephalopathy Truncal ataxia Postural tremor Talipes equinovarus Progressive microcephaly Anterior cortical cataract Limited wrist movement Hand tremor Absence seizures Slurred speech Focal impaired awareness seizure Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Posterior cortical cataract Upper limb dysmetria Action tremor Torsion dystonia Abnormality of the head Limb dysmetria Paroxysmal dystonia Jerky head movements Focal aware seizure Limited elbow extension Splenomegaly Abnormality of the nervous system Hydrocephalus Cerebral visual impairment Foot dorsiflexor weakness Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Saccadic smooth pursuit Dysmetric saccades Sensorimotor neuropathy Dyslexia Generalized limb muscle atrophy Stuttering Abnormality of the thumb Posterior subcapsular cataract Central scotoma Muscle fibrillation Increased CSF protein Tritanomaly Abnormality of the liver Cerulean cataract Loss of facial expression Red-green dyschromatopsia Normal pressure hydrocephalus Abnormality of extrapyramidal motor function Hepatosplenomegaly Hepatic failure Absent Achilles reflex Positive Romberg sign Progressive cerebellar ataxia Muscle cramps Areflexia of lower limbs Paralysis Hepatic fibrosis Supranuclear gaze palsy Horizontal nystagmus Vertigo Limb ataxia Steppage gait Abnormality of the foot Lower limb muscle weakness Peripheral axonal neuropathy Distal amyotrophy Neutropenia Peripheral demyelination Glomerulosclerosis Focal segmental glomerulosclerosis Impaired oropharyngeal swallow response Axonal degeneration Segmental peripheral demyelination/remyelination Peripheral axonal degeneration Segmental peripheral demyelination Sensorineural hearing impairment Hyperhidrosis Abnormal autonomic nervous system physiology Limb muscle weakness Sleepy facial expression Osteomyelitis Spastic paraparesis Babinski sign Spastic paraplegia Paraplegia Postural instability Dehydration Clonus Paraparesis Brisk reflexes Acute demyelinating polyneuropathy Progressive spastic paraplegia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal choreoathetosis Drooling Episodic fever EMG: neuropathic changes Progressive hearing impairment Global brain atrophy Lower limb spasticity Anemia Retinal degeneration Psychosis Agitation Auditory hallucinations Dyscalculia Psychotic episodes Microcephaly EEG abnormality Borderline personality disorder Aggressive behavior Abnormality of movement Hemolytic anemia Chorea Focal-onset seizure Specific learning disability Generalized-onset seizure Personality disorder Phonophobia Axonal loss Delayed speech and language development Neurofibrillary tangles Lewy bodies Diffuse cerebral atrophy Excessive daytime somnolence Delirium Cataplexy Narcolepsy Vomiting Restlessness Photophobia Developmental regression Autistic behavior Stroke Nausea Apraxia Tinnitus Loss of consciousness Hirano bodies



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