Optic atrophy, and Epileptic encephalopathy

Diseases related with Optic atrophy and Epileptic encephalopathy

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


Top matches:

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; EIEE28


Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

High 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:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Optic atrophy


SOURCES: OMIM MENDELIAN

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

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58


EIEE58 is a severe neurodevelopmental disorder characterized by onset of refractory seizures in the first days or months of life. Affected individuals have global developmental delay with intellectual disability, usually with absent speech and inability to walk. Additional features include optic atrophy with poor or absent visual fixation, hypotonia, and spasticity (summary by Hamdan et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58

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Other less relevant matches:

High match 3-METHYLGLUTACONIC ACIDURIA TYPE 9


MGCA9 is an autosomal recessive disorder characterized by early-onset seizures, severely delayed psychomotor development and intellectual disability. Patients have hypotonia or spasticity, and laboratory investigations show increased serum lactate and 3-methylglutaconic aciduria, suggestive of a mitochondrial defect (summary by Shahrour et al., 2017).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

3-METHYLGLUTACONIC ACIDURIA TYPE 9 Is also known as 3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome|mga9

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 9

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6


Multiple mitochondrial dysfunctions syndrome-6 is an autosomal recessive severe neurodegenerative disorder with onset in early childhood. Affected individuals may have initial normal development, but show neurologic regression in the first year of life. They have hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity. Some patients may die in childhood. Laboratory evidence indicates that the disorder results from mitochondrial dysfunction (summary by Vogtle et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 6; MMDS6

High match EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3


IECEE3 is an autosomal dominant neurologic disorder characterized by delayed psychomotor development, early-onset refractory seizures, and intellectual disability. The severity of the phenotype is highly variable: some patients may be nonverbal and nonambulatory with spastic quadriparesis and poor eye contact, whereas others have moderate intellectual disability (summary by Fassio et al., 2018).For a discussion of genetic heterogeneity of IECEE, see IECEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3; IECEE3

High match MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT


Encephalopathy due to defective mitochondrial and peroxisomal fission-2 is an autosomal recessive disorder characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia. More variable features include early-onset seizures, optic atrophy, and peripheral neuropathy (summary by Koch et al., 2016).For a discussion of genetic heterogeneity of EMPF, see EMPF1 (OMIM ).

MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT Is also known as leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome|leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MFF-RELATED ENCEPHALOPATHY DUE TO MITOCHONDRIAL AND PEROXISOMAL FISSION DEFECT

High match PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA


Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.

PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA Is also known as pmed|progressive myoclonus epilepsy with dystonia

Related symptoms:

  • Global developmental delay
  • Microcephaly
  • Feeding difficulties
  • Optic atrophy
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY WITH DYSTONIA

High match MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2


Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

High match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11


Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Top 5 symptoms//phenotypes associated to Optic atrophy and Epileptic encephalopathy

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
Encephalopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Optic atrophy and Epileptic encephalopathy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Absent speech

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Hypsarrhythmia Cerebral atrophy Intellectual disability Myoclonus Hyperreflexia Cerebellar atrophy Inability to walk Feeding difficulties Status epilepticus Developmental regression Ataxia Visual impairment Postnatal microcephaly Abnormality of extrapyramidal motor function Brain atrophy Hypoplasia of the corpus callosum Visual loss Muscular hypotonia of the trunk Delayed myelination Dystonia

Rare Symptoms - Less than 30% cases


Hypertonia Abnormal pyramidal sign Clonus Abnormality of mitochondrial metabolism Delayed ability to walk Optic disc pallor Infantile spasms Spastic tetraplegia Poor head control Vomiting Febrile seizures Excessive daytime sleepiness Respiratory failure Failure to thrive Increased serum lactate Generalized myoclonic seizures Severe muscular hypotonia Intellectual disability, severe Progressive microcephaly Hemiparesis Neonatal hypotonia Respiratory distress Generalized tonic-clonic seizures Dilated cardiomyopathy Hypertrophic cardiomyopathy Slurred speech Cardiomyopathy Hepatomegaly Cerebral calcification Flexion contracture Poor visual behavior for age EEG with irregular generalized spike and wave complexes Diffuse cerebellar atrophy Abnormality of eye movement Generalized neonatal hypotonia Delayed CNS myelination Lethargy Leukodystrophy Paralysis Language impairment Hyponatremia Global brain atrophy Edema Pain Nonketotic hyperglycinemia Hemiplegia Decreased activity of the pyruvate dehydrogenase complex Decreased activity of mitochondrial respiratory chain Lactic acidosis Abnormality of the nervous system Hyperglycinemia Abnormality of the eye Malnutrition Back pain Atonic seizures Hyperventilation Headache Diffuse cerebral atrophy Poor speech Recurrent upper respiratory tract infections Cutaneous photosensitivity Optic nerve hypoplasia Stereotypy EEG abnormality Difficulty walking Nystagmus Macular degeneration Progressive neurologic deterioration Focal-onset seizure Muscle weakness Hypokinesia Cortical gyral simplification Abnormal electroretinogram Generalized-onset seizure Abnormal cerebellum morphology Retinal degeneration Rigidity Growth delay Spastic diplegia Abnormality of the cerebral white matter Brisk reflexes Tetraparesis Ophthalmoparesis External ophthalmoplegia Dysphagia Peripheral neuropathy Poor eye contact CNS hypomyelination Spastic tetraparesis Iris coloboma Aciduria Hypermetropia Coloboma Cryptorchidism Abnormal facial shape Leukoencephalopathy Tetraplegia Dysmetria 3-Methylglutaconic aciduria Megalencephaly



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