MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandautosomal recessive metabolic cerebellar ataxia (MONDO:0020044)
Parent Node:
expandinborn disorder of amino acid absorption and transport (MONDO:0019216)
Parent Node:
expandmetabolic disease with dementia (MONDO:0020142)
..Starting node
..expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()

       Child Nodes:
........expandautosomal recessive spinocerebellar ataxia 13 ()
........expandautosomal recessive spinocerebellar ataxia 18 ()



 Sister Nodes: 
..expandabetalipoproteinemia ()
..expandadult Refsum disease ()
..expandautosomal recessive ataxia due to ubiquinone deficiency ()  LSDB  L: 00443;
..expandautosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome ()
..expandautosomal recessive cerebellar ataxia due to a DNA repair defect ()
..expandautosomal recessive cerebellar ataxia with late-onset spasticity ()
..expandcerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome ()
..expandcerebral amyloid angiopathy ()
..expandcerebral lipidosis with dementia ()
..expandchorea-acanthocytosis ()
..expandfamilial isolated deficiency of vitamin E ()
..expandhereditary sensory neuropathy-deafness-dementia syndrome ()
..expandinfantile onset spinocerebellar ataxia ()  LSDB  L: 00036;
..expandinfantile Refsum disease ()
..expandITM2B amyloidosis ()
..expandMcLeod neuroacanthocytosis syndrome ()
..expandmetachromatic leukodystrophy ()
..expandneurodegeneration with brain iron accumulation ()
..expandrecessive mitochondrial ataxia syndrome ()
..expandspastic ataxia 3 ()
..expandspastic ataxia 4 ()  LSDB  L: 00083;
..expandspastic ataxia 5 ()
..expandspinocerebellar ataxia type 28 ()  LSDB  L: 00498;
..expandspinocerebellar ataxia type 38 ()
..expandX-linked adrenoleukodystrophy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18189
Name:autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
Definition:Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome is a rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.
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