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.
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:
SOURCES: ORPHANET OMIM MENDELIAN
More info about MYOCLONIC-ASTASTIC EPILEPSYADan 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:
SOURCES: OMIM MESH ORPHANET MENDELIAN
More info about ADAN AMYLOIDOSISDEDSM 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:
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:
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 |
Patients with Ataxia and Encephalopathy. may also develop some of the following symptoms:
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