Nystagmus, and Generalized seizures

Diseases related with Nystagmus and Generalized seizures

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


Top matches:

Low match PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3

gene (chromosome 10q22), encoding the alpha subunit of the BK channel. Transmission is autosomal dominant.

PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3 Is also known as generalized epilepsy and paroxysmal dyskinesia;gepd;gepd

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO ORPHANET OMIM MESH UMLS

More info about PAROXYSMAL NONKINESIGENIC DYSKINESIA, 3, WITH OR WITHOUT GENERALIZED EPILEPSY; PNKD3

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:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: MONDO UMLS OMIM

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

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Other less relevant matches:

Low match ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1

Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment (Mikati et al., 1992).The disorder may mimic or overlap with other disorders, including familial hemiplegic migraine (FHM1 ) and GLUT1 deficiency syndrome (OMIM ) (Rotstein et al., 2009). Genetic Heterogeneity of Alternating Hemiplegia of ChildhoodSee also AHC2 (OMIM ), caused by mutation in the ATP1A3 gene (OMIM ).

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Nystagmus


SOURCES: OMIM UMLS MONDO

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 1; AHC1

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS OMIM MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42; EIEE42

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12 Is also known as spinocerebellar ataxia with mental retardation and epilepsy;autosomal recessive spinocerebellar ataxia type 12; scar12

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly


SOURCES: MONDO ORPHANET UMLS OMIM DOID

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12; SCAR12

Low match STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Bilateral striatal necrosis (BSN) encompasses a heterogeneous group of neurologic disorders with different causation. Familial infantile striatal degeneration is rare and can be inherited as an autosomal recessive or mitochondrial (see {500003}) disorder. The familial form has an insidious onset and a slowly progressive course; the sporadic form is associated with acute systemic illness. Many features of BSN overlap with Leigh syndrome (OMIM ) and certain metabolic disorders, including glutaric acidemia I (OMIM ) and methylmalonic aciduria (OMIM ). See also Aicardi-Goutieres syndrome (OMIM ) (Mito et al., 1986; De Meirleir et al., 1995). Genetic Heterogeneity of Stiatonigral DegenerationChildhood-onset striatonigral degeneration (OMIM ) is caused by mutation in the VAC14 gene (OMIM ) on chromosome 16q22.See also adult-onset autosomal dominant striatal degeneration (ADSD ), caused by mutation in the PDE8B gene (OMIM ) on chromosome 5q13.

STRIATONIGRAL DEGENERATION, INFANTILE; SNDI Is also known as infantile bilateral striatal necrosis;ibsn, bilateral striatal necrosis, infantile, striatal degeneration, familial

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET

More info about STRIATONIGRAL DEGENERATION, INFANTILE; SNDI

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match SPINOCEREBELLAR ATAXIA 10; SCA10

The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 10; SCA10 Is also known as ;sca10

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: UMLS GARD MONDO ORPHANET MESH OMIM DOID SCTID

More info about SPINOCEREBELLAR ATAXIA 10; SCA10

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10 Is also known as ;autosomal recessive spinocerebellar ataxia type 10; scar10

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus


SOURCES: OMIM DOID UMLS MONDO ORPHANET

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10; SCAR10

Top 5 symptoms//phenotypes associated to Nystagmus and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Autosomal dominant inheritance Cerebellar atrophy Generalized hypotonia Abnormality of eye movement Optic atrophy Autosomal recessive inheritance Status epilepticus Dystonia Cognitive impairment Athetosis Spasticity Limb ataxia Abnormality of the eye Tremor Hyperreflexia Choreoathetosis Dysmetria

Rare Symptoms - Less than 30% cases


Mental deterioration Intellectual disability, mild Chorea Hyporeflexia Babinski sign Dyskinesia Gaze-evoked nystagmus EEG abnormality Generalized tonic-clonic seizures Hypertonia Dysphagia Intention tremor Unsteady gait Milia Progressive cerebellar ataxia Delayed speech and language development Esotropia Tetraplegia Depressivity Episodic quadriplegia Dysmetric saccades Hemiplegia Brisk reflexes Peripheral neuropathy Headache Aggressive behavior Poor speech Abnormal cerebellum morphology Hip dysplasia Focal seizures with impairment of consciousness or awareness Apraxia Apathy Narrow forehead Abnormal enzyme/coenzyme activity Dysdiadochokinesis Cortical visual impairment Decreased nerve conduction velocity Lower limb spasticity Abnormality of extrapyramidal motor function Urinary incontinence Dementia Sleep disturbance Polyneuropathy Abnormal pyramidal sign Focal seizures Morphological abnormality of the pyramidal tract Incoordination Pes cavus Slurred speech Progressive gait ataxia Diplopia Macular degeneration EMG abnormality Slow saccadic eye movements Horizontal nystagmus Truncal ataxia Saccadic smooth pursuit Downbeat nystagmus Fasciculations Retinal detachment Intellectual disability, moderate Fatigue Urinary urgency Cataract EEG with generalized epileptiform discharges Focal motor seizures Genetic anticipation Scanning speech Kinetic tremor Hypermetric saccades Leg muscle stiffness Gait imbalance Ankle clonus Impaired smooth pursuit Motor polyneuropathy Personality changes Ptosis Vomiting Osteopenia Loss of consciousness Episodic hemiplegia Abnormality of the mitochondrion Paralysis Dyspnea Tics Optic neuropathy Central scotoma Optic disc pallor Pallor Photophobia Reduced visual acuity Hemiparesis Generalized myoclonic seizures Tetraparesis Migraine Parkinsonism Abnormality of movement Anxiety Rigidity Pica EEG with spike-wave complexes (>3.5 Hz) Intellectual disability, borderline Paroxysmal dyskinesia Absence seizures Strabismus Flexion contracture Epileptic encephalopathy Prominent forehead Neuronal loss in central nervous system Osteoporosis Anteverted nares Wide nasal bridge Myopia Visual impairment Hypertelorism Abnormality of the basal ganglia Developmental stagnation Pendular nystagmus Involuntary movements Nausea Neurodegeneration Gliosis Limb hypertonia Nausea and vomiting Developmental regression Clonus Absent speech Myoclonus Failure to thrive Urinary bladder sphincter dysfunction Retinal degeneration Motor delay Growth delay Microcephaly Alternating esotropia Tortuosity of conjunctival vessels


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