Ataxia, and Encephalopathy

Diseases related with Ataxia and Encephalopathy

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24


Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Behavioral abnormality
  • Febrile seizures


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 24; EIEE24

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32


Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Tremor


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32; EIEE32

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 43; EIEE43

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45


Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 45; EIEE45

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 38; EIEE38

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Low match MYOCLONIC-ASTASTIC EPILEPSY


Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOCLONIC-ASTASTIC EPILEPSY

Low match ADAN AMYLOIDOSIS


ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

Low match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52


EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino 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
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Top 5 symptoms//phenotypes associated to Ataxia and Encephalopathy

Symptoms // Phenotype % cases
Epileptic encephalopathy Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypsarrhythmia Febrile seizures Status epilepticus Generalized tonic-clonic seizures Tremor Myoclonus Absent speech Generalized myoclonic seizures Spasticity

Rare Symptoms - Less than 30% cases


Developmental regression Fever Absence seizures Eyelid myoclonus Dystonia Delayed speech and language development Visual impairment Aspiration Rigidity Intention tremor Atypical absence seizures Neurofibrillary tangles Posterior polar cataract Cerebral amyloid angiopathy Short stature Motor delay Developmental stagnation Aspiration pneumonia EEG abnormality Bradykinesia Limb ataxia Arnold-Chiari type I malformation Focal impaired awareness seizure Hypomimic face Myokymia Cortical myoclonus Myoclonic absences Pneumonia Abnormality of the nervous system Abnormal pyramidal sign Dementia Cyanosis Psychosis Falls Cataract Muscular hypotonia of the trunk Behavioral abnormality Cognitive impairment Hyperactivity Dyskinesia Hypoplasia of the corpus callosum Cerebral visual impairment Hypertonia Retinal dystrophy Intellectual disability, profound Central hypotonia Cerebral atrophy Gait ataxia Unsteady gait Hearing impairment Scoliosis Dysarthria Aggressive behavior Mental deterioration Autistic behavior Impulsivity Atonic seizures Abnormal brain FDG positron emission tomography EEG with spike-wave complexes (>3.5 Hz) Photosensitive tonic-clonic seizures EEG with abnormally slow frequencies Myoclonic atonic seizures Hemiclonic seizures



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