Nystagmus, and Headache

Diseases related with Nystagmus and Headache

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


Top matches:

Low match BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4


Idiopathic basal ganglia calcification-4 is an autosomal dominant condition characterized by the accumulation of calcium deposits in various brain regions, most commonly in the basal ganglia. About half of mutation carriers are asymptomatic, but some present later in life with parkinsonism and impaired cognitive function. Migraine or depression may occur in younger individuals (summary by Nicolas et al., 2013).For a detailed phenotypic description and a discussion of genetic heterogeneity of IBGC, see IBGC1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Cognitive impairment
  • Depressivity
  • Dementia
  • Hyperactivity


SOURCES: OMIM MENDELIAN

More info about BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4; IBGC4

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2


Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Low match EPISODIC ATAXIA TYPE 6


Episodic ataxia type 6 (EA6) is an exceedingly rare form of Hereditary episodic ataxia (see this term) with varying degrees of ataxia and associated findings including slurred speech, headache, confusion and hemiplegia.

Related symptoms:

  • Seizures
  • Ataxia
  • Cerebellar atrophy
  • Headache
  • Reduced visual acuity


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 6

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Other less relevant matches:

Low match FAMILIAL PAROXYSMAL ATAXIA


Episodic ataxia type 2 (EA2) is the most frequent form of Hereditary episodic ataxia (EA; see this term) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia.

FAMILIAL PAROXYSMAL ATAXIA Is also known as episodic ataxia type 2

Related symptoms:

  • Intellectual disability
  • Ataxia
  • Nystagmus
  • Dysarthria
  • Behavioral abnormality


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PAROXYSMAL ATAXIA

Low match FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE


Hemiplegic migraine (HM) is a rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. Hemiplegic migraine has two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL OR SPORADIC HEMIPLEGIC MIGRAINE

Low match ARNOLD-CHIARI MALFORMATION TYPE II


Arnold-Chiari malformation type II is a rare, central nervous system malformation characterized by caudal displacement of the cerebellum, pons, medulla and fourth ventricle through the foramen magnum into the spinal canal, and is typically associated with myelomeningocele. Variable other central nervous system abnormalities might be present (partial or complete agenesis of the corpus callosum, a small fourth ventricle, obstructive hydrocephalus, falx and tentorium defects, and polygyria). Symptoms include hypotonia, apnea with cyanosis, dysphagia, opisthotonus, nystagmus, spasticity, ataxia, and occipital headache.

ARNOLD-CHIARI MALFORMATION TYPE II Is also known as cm2|arnold-chiari malformation|chiari malformation type ii|chiari malformation type 2|arnold-chiari malformation type 2

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE II

Low match CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY


Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a rare inborn error of metabolism disorder characterized by early-onset, acute, encephalopathic episodes (frequently triggered by viral infections), associated with lactic acidosis and alpha-ketoglutaric aciduria, which typically manifest with variable degrees of ataxia, generalized developmental regression (which deteriorates with each episode) and dystonia. Other manifestations include spasticity, seizures, truncal hypotonia, limb hypertonia, brisk tendon reflexes and reversible coma.

CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY Is also known as encephalopathy, episodic, due to thiamine pyrophosphokinase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHILDHOOD ENCEPHALOPATHY DUE TO THIAMINE PYROPHOSPHOKINASE DEFICIENCY

Low 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

Low 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

Low match EPISODIC ATAXIA, TYPE 6; EA6


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

Top 5 symptoms//phenotypes associated to Nystagmus and Headache

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Migraine Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hemiplegia Common - Between 50% and 80% cases
Vertigo Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Nystagmus and Headache. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hemiparesis Dysarthria Generalized hypotonia Phonophobia Gait ataxia Photophobia Global developmental delay Diplopia Intellectual disability Migraine with aura Coma Dysphasia Nausea Vomiting Depressivity Episodic ataxia Cerebellar atrophy Confusion Dystonia Tremor

Rare Symptoms - Less than 30% cases


Anxiety Tinnitus Slurred speech Gaze-evoked nystagmus Behavioral abnormality Cognitive impairment Abnormal cerebellum morphology Personality disorder Nausea and vomiting Blindness Paresthesia Fever Edema Muscular hypotonia Hearing impairment Spasticity Rigidity Drowsiness Intention tremor Abnormality of movement Motor delay Transient unilateral blurring of vision Truncal ataxia Dysphagia Loss of consciousness Parkinsonism Progressive spasticity Loss of speech Global brain atrophy Dysphonia Brain atrophy Lactic acidosis Delayed speech and language development Left ventricular hypertrophy Mild microcephaly Intellectual disability, mild Ventricular hypertrophy Loss of ability to walk Apraxia Intellectual disability, moderate Borderline personality disorder Visual hallucinations Auditory hallucinations Dyscalculia Agitation Hallucinations Psychosis Retinal degeneration Pain Migraine without aura Psychotic episodes Developmental regression Restlessness Fatigue Severe hearing impairment Blurred vision Cerebellar hypoplasia Urinary urgency Aphasia Dysmetria Stroke Autistic behavior Acidosis Limb muscle weakness Babinski sign Tetraplegia Cerebellar vermis atrophy Torticollis Reduced visual acuity Episodic quadriplegia Abnormal autonomic nervous system physiology Choreoathetosis Tetraparesis Status epilepticus Generalized-onset seizure Chorea Abnormality of eye movement EEG abnormality Generalized tonic-clonic seizures Abnormality of the eye Mental deterioration Bipolar affective disorder Basal ganglia calcification Bradykinesia Attention deficit hyperactivity disorder Abnormal pyramidal sign Hyperactivity Dementia Sensorineural hearing impairment Neurological speech impairment Encephalopathy Opisthotonus Gait disturbance Microcephaly Occipital neuralgia Cervical myelopathy Inspiratory stridor Bulbar signs Myelomeningocele Syringomyelia Weak cry Partial agenesis of the corpus callosum Stridor Pigmentary retinopathy Arnold-Chiari malformation Spina bifida Heterotopia Cyanosis Paralysis Apnea Agenesis of corpus callosum Hydrocephalus Feeding difficulties Hemiplegia/hemiparesis Abnormality of retinal pigmentation Hypometric saccades



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