Optic atrophy, and Generalized seizures

Diseases related with Optic atrophy and Generalized seizures

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


Top matches:

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11

Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11 Is also known as ;

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Ataxia
  • Visual impairment
  • Optic atrophy


SOURCES: UMLS DOID MONDO OMIM ORPHANET

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 11; CLN11

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: UMLS MONDO OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28

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Other less relevant matches:

Medium match LISSENCEPHALY 8; LIS8

Lissencephaly-8 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia. Brain imaging shows variable features, including cortical gyral abnormalities and hypoplasia of the corpus callosum, brainstem, and cerebellum (summary by Jerber et al., 2016).For a general description and a discussion of genetic heterogeneity lissencephaly, see LIS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MONDO UMLS

More info about LISSENCEPHALY 8; LIS8

Medium 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

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as ceroid lipofuscinosis, neuronal, 2, variable age at onset, jansky-bielschowsky disease

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Pica
  • Ataxia
  • Visual impairment


SOURCES: OMIM

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Medium match MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

MERRF (Myoclonic Epilepsy with Ragged Red Fibers) syndrome is a mitochondrial encephalomyopathy characterized by myoclonic seizures.

MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF Is also known as merrf syndrome;fukuhara syndrome; myoclonus epilepsy associated with ragged-red fibres

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: GARD OMIM DOID ICD10 MONDO NCIT ORPHANET MESH SCTID

More info about MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

Early infantile epileptic encephalopathy-16 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the first weeks or months of life. Seizures can be of various types, are unresponsive to medication, last for long periods of time, and occur frequently. Affected infants show psychomotor regression or lack of psychomotor development, as well as other neurologic features such as extrapyramidal signs and hypotonia. Most die in childhood (summary by Duru et al., 2010 and Milh et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: MONDO UMLS OMIM

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 16; EIEE16

Medium 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

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3

Mutations in the KCTD7 gene cause a severe neurodegenerative phenotype characterized by onset of intractable myoclonic seizures before age 2 years and accompanied by developmental regression. The initial description was consistent with a form of progressive myoclonic epilepsy (designated here as EPM3), whereas a later report identified intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis (designated CLN14). Ultrastructural findings on skin biopsies thus appear to be variable. However, clinical features are generally consistent between reports (summary by Staropoli et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).For a general phenotypic description and a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3 Is also known as ceroid lipofuscinosis, neuronal, 14;cln14;epm3; pme type 3; progressive myoclonic epilepsy due to kctd7 deficiency; progressive myoclonus epilepsy type 3

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis


SOURCES: MESH OMIM ORPHANET GARD MONDO UMLS

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS; EPM3

Top 5 symptoms//phenotypes associated to Optic atrophy and Generalized seizures

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Autosomal recessive inheritance Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Generalized myoclonic seizures Myoclonus Cerebellar atrophy Global developmental delay Clonus Developmental regression Retinal degeneration Muscular hypotonia of the trunk Encephalopathy Cerebral atrophy Hypoplasia of the corpus callosum Neurodegeneration Generalized hypotonia Visual loss Nystagmus

Rare Symptoms - Less than 30% cases


Dysarthria Neuronal loss in central nervous system Delayed speech and language development Status epilepticus Progressive Dystonia Absent speech Retinopathy Mental deterioration Myopathy Cutaneous photosensitivity Abnormal electroretinogram Ranula Epileptic encephalopathy Visual impairment Growth delay Macular degeneration Delayed myelination Increased serum pyruvate Sensorineural hearing impairment Brain atrophy Focal seizures Abnormal pyramidal sign Muscle weakness Cognitive impairment Ragged-red muscle fibers Progressive external ophthalmoplegia Mitochondrial inheritance Mitochondrial myopathy Abnormality of movement Ophthalmoplegia Increased serum lactate Multiple lipomas EMG abnormality External ophthalmoplegia Optic neuropathy Postnatal microcephaly Abnormality of extrapyramidal motor function Gliosis Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Truncal ataxia Fever Scoliosis Abnormality of the basal ganglia Developmental stagnation Pendular nystagmus Involuntary movements Nausea Choreoathetosis Athetosis Abnormality of eye movement Progressive neurologic deterioration Nausea and vomiting Abnormality of the eye Vomiting Hypertonia Dysphagia Milia Failure to thrive Severe muscular hypotonia Trophic changes related to pain Hemiparesis Increased extraneuronal autofluorescent lipopigment Short stature Atonic seizures Abnormal nervous system electrophysiology Hypokinesia Hypoplasia of the brainstem Lissencephaly Encephalocele Polymicrogyria Elevated serum creatine phosphokinase Microphthalmia Talipes equinovarus Ventriculomegaly Infantile onset Cataract Cortical gyral simplification Occipital encephalocele Progressive microcephaly Abnormal cerebellum morphology Rigidity Peripheral neuropathy Intellectual disability, mild Reduced visual acuity Photophobia Hyperreflexia Pallor Optic disc pallor Cephalocele Type II lissencephaly Mitochondrial encephalopathy Retinal dystrophy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Retinal thinning Undetectable electroretinogram Motor deterioration Central scotoma Progressive visual loss Tetraparesis Retinal detachment EEG abnormality Dementia Abnormal myelination Rapidly progressive Rod-cone dystrophy Blindness Pica Urinary bladder sphincter dysfunction Gaze-evoked nystagmus Limb ataxia Gait ataxia Babinski sign Hyporeflexia Motor delay Focal myoclonic seizures


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