Tremor, and Paresthesia

Diseases related with Tremor and Paresthesia

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


Top matches:

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

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Other less relevant matches:

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 MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

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

Medium match INSULINOMA


Insulinoma is the most common type of functioning pancreatic neuroendocrine tumor (see this term) characterized most commonly by a solitary, small pancreatic lesion that causes hyperinsulinemic hypoglycemia.

Related symptoms:

  • Seizures
  • Tremor
  • Fatigue
  • Behavioral abnormality
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about INSULINOMA

Medium match X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5


X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Medium match GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME


Gerstmann-Straussler-Scheinker syndrome (GSSS) is a particular and rare form of human transmissible spongiform encephalopathy (TSE) due to a defective gene encoding the prion protein (PRNP gene) and marked by particular multicentric amyloid plaques in the brain.

GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME Is also known as gerstmann-straussler-scheinker disease|prion dementia|subacute spongiform encephalopathy, gerstmann-straussler type|encephalopathy, subacute spongiform, gerstmann-straussler type|amyloidosis, cerebral, with spongiform encephalopathy|cerebellar ataxia, pro

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GERSTMANN-STRAUSSLER-SCHEINKER SYNDROME

Top 5 symptoms//phenotypes associated to Tremor and Paresthesia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Cerebellar atrophy Spasticity Confusion Hyperreflexia Intellectual disability Reduced visual acuity Muscle weakness Peripheral neuropathy Coma Depressivity Headache Dysarthria Blindness Anxiety Hemiplegia Visual loss Unsteady gait Myoclonus Areflexia Visual impairment Cataract Fever Dysmetria Aphasia Optic atrophy Generalized hypotonia Mental deterioration Hallucinations Hemiparesis Pain Motor delay Migraine Abnormal cerebellum morphology Sensory impairment Frequent falls Memory impairment Behavioral abnormality Intellectual disability, mild Rigidity

Rare Symptoms - Less than 30% cases


Lower limb muscle weakness Progressive cerebellar ataxia Distal sensory impairment Distal muscle weakness Paralysis Slurred speech Limb ataxia Gait disturbance Hyporeflexia Dysesthesia Sensorimotor neuropathy Language impairment Encephalopathy Myopathy Neurodegeneration Gliosis Emotional lability Truncal ataxia Hyperkinesis Muscle stiffness Apathy Pes cavus Personality changes Difficulty walking Supranuclear gaze palsy Choreoathetosis Extrapyramidal muscular rigidity Areflexia of lower limbs Insomnia Abnormality of extrapyramidal motor function Involuntary movements Dementia Falls Migraine with aura Blurred vision Dysphasia Diplopia Intention tremor Apraxia Cognitive impairment Visual hallucinations Episodic ataxia Psychosis Drowsiness Aggressive behavior Irritability Migraine without aura Edema Transient unilateral blurring of vision Intellectual disability, moderate Increased body weight Lethargy Generalized muscle weakness Palpitations Hip dysplasia Polyphagia Abnormality of vision Hyperinsulinemia Clumsiness Hearing abnormality Bradykinesia Spastic tetraplegia Hyperinsulinemic hypoglycemia Chronic diarrhea Normal pressure hydrocephalus Hyperhidrosis Alzheimer disease Perseveration Abnormal pyramidal sign Hypomimic face Lewy bodies Neuronal loss in central nervous system Cerebral visual impairment Impaired smooth pursuit Neurofibrillary tangles Global brain atrophy Athetosis Fatigue Visual field defect Akinesia Muscle fibrillation Increased CSF protein Delusions Mutism Primary hyperparathyroidism Loss of facial expression Hirano bodies Recurrent hypoglycemia Nonketotic hypoglycemia Reduced consciousness/confusion Cerebral cortical atrophy Peripheral axonal neuropathy Distal amyotrophy Sensory neuropathy Polyneuropathy Progressive visual loss Optic disc pallor Bilateral sensorineural hearing impairment Broad-based gait Paraparesis Progressive hearing impairment Diarrhea Pallor Mildly elevated creatine phosphokinase Macular atrophy Onion bulb formation Dysphagia Segmental peripheral demyelination/remyelination Impaired pain sensation Optic neuropathy Congenital nystagmus Excessive daytime somnolence Kinetic tremor Weight loss Rod-cone dystrophy Pituitary prolactin cell adenoma Transient global amnesia Abnormal nerve conduction velocity Neuroendocrine neoplasm Fasting hyperinsulinemia Abnormality of higher mental function Zollinger-Ellison syndrome Brain atrophy Abnormal rapid eye movement sleep Parkinsonism Reactive hypoglycemia Tetraplegia Neoplasm of the adrenal gland Elevated serum creatine phosphokinase Poor speech Abnormality of eye movement Fluctuations in consciousness Abnormality of pain sensation Limb muscle weakness Abnormality of the pancreatic islet cells Scoliosis Sensorineural hearing impairment Abnormality of the eye Kyphosis Skeletal muscle hypertrophy Muscle cramps Recurrent infections Horizontal nystagmus Abnormality of movement Dyskinesia Hemolytic anemia Chorea Focal-onset seizure Specific learning disability Generalized-onset seizure Lower limb spasticity Progressive microcephaly Absence seizures EEG abnormality Focal impaired awareness seizure Impulsivity Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Torsion dystonia Abnormality of the head Limb dysmetria Generalized tonic-clonic seizures Cerebral atrophy Paroxysmal dystonia Severe hearing impairment Delayed speech and language development Vomiting Photophobia Developmental regression Autistic behavior Stroke Vertigo Nausea Tinnitus Loss of consciousness Restlessness Dystonia Phonophobia Borderline personality disorder Personality disorder Retinal degeneration Agitation Auditory hallucinations Dyscalculia Psychotic episodes Microcephaly Anemia Paroxysmal dyskinesia Jerky head movements Hydrocephalus Anterior subcapsular cataract Posterior subcapsular cataract Abnormality of the thumb Dyslexia Absent Achilles reflex Positive Romberg sign Red-green dyschromatopsia Cerulean cataract Tritanomaly Limited wrist movement Deviation of the 2nd finger Anterior cortical cataract Resting tremor Posterior cortical cataract Neoplasm Constipation Scarring Autoimmunity Urinary incontinence Incoordination Brain neoplasm CNS demyelination Urinary hesitancy Central scotoma Limited elbow extension Focal aware seizure Hepatic fibrosis Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Hepatomegaly Skeletal muscle atrophy Talipes equinovarus Splenomegaly Hepatosplenomegaly Abnormality of the liver Hepatic failure Foot dorsiflexor weakness Postural tremor Cerebellar vermis atrophy Progressive gait ataxia Acute hepatic failure Distal lower limb muscle weakness Saccadic smooth pursuit Dysmetric saccades Generalized limb muscle atrophy Stuttering Abnormality of the nervous system Reduced tendon reflexes Cerebral amyloid angiopathy



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