Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis

Preferred Label : Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis;

Symbol : SANDO;

CISMeF acronym : EPM5; SANDO; SCAE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive;

Included titles and symbols : Spinocerebellar ataxia with epilepsy; Epilepsy, progressive myoclonic, with sensory ataxic neuropathy; Epilepsy, progressive myoclonic, 5; SCAE; EPM5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002);

Laboratory abnormalities : Mildly increased serum lactate; Mildly increased serum creatine kinase;

Prefixed ID : #607459;

Détails

Origin ID

607459;

UMLS CUI

C1843851;

Automatic exact mappings (from CISMeF team)
- Myoclonic epilepsy myopathy sensory ataxia (disorder) [SNOMED CT concept]
- Progressive myoclonic epilepsy type 5 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia with epilepsy [MeSH concept]
- spinocerebellar ataxia with epilepsy [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) [SNOMED CT concept]
- Sensory ataxic neuropathy – dysarthria - ophthalmoparesis [ICD-11 More detail]
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [MeSH concept]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DO Concept]
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [MeSH Supplementary Concept]
DO Cross reference
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DO Concept]
Genes related to phenotype
- Polymerase, dna, gamma [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Adult onset [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Atrophy/Degeneration involving the spinal cord [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Broad-based gait [HPO term]
- Cataract [HPO term]
- Centrally nucleated skeletal muscle fibers [HPO term]
- Cognitive impairment [HPO term]
- Cytochrome C oxidase-negative muscle fibers [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Difficulty climbing stairs [HPO term]
- Dilated cardiomyopathy [HPO term]
- Diminished ability to concentrate [HPO term]
- Distal muscle weakness [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Early young adult onset [HPO term]
- Emotional lability [HPO term]
- Exercise intolerance [HPO term]
- External ophthalmoplegia [HPO term]
- Fiber type grouping [HPO term]
- Frequent falls [HPO term]
- Gait ataxia [HPO term]
- Gastroparesis [HPO term]
- Generalized amyotrophy [HPO term]
- Generalized muscle weakness [HPO term]
- Hypoesthesia [HPO term]
- Hyporeflexia [HPO term]
- Impaired distal proprioception [HPO term]
- Impaired distal tactile sensation [HPO term]
- Impaired distal vibration sensation [HPO term]
- Increased serum lactate [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Intestinal pseudo-obstruction [HPO term]
- Juvenile onset [HPO term]
- Migraine [HPO term]
- Mildly elevated creatine kinase [HPO term]
- Mildly increased serum lactate [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Multiple mitochondrial DNA deletions [HPO term]
- Muscle biopsy shows decreased activity of cytochrome C oxidase in most cases [HPO term]
- Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions in most cases [HPO term]
- Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei [HPO term]
- Muscle fiber necrosis [HPO term]
- Muscle fibrillation [HPO term]
- Muscle weakness [HPO term]
- Myoclonus [HPO term]
- Myopathy [HPO term]
- Nasal speech [HPO term]
- Nystagmus [HPO term]
- Ophthalmoparesis [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Positive Romberg sign [HPO term]
- Progressive external ophthalmoplegia [HPO term]
- Progressive gait ataxia [HPO term]
- Proximal muscle weakness [HPO term]
- Proximal muscle weakness, mild [HPO term]
- Ptosis [HPO term]
- Ragged-red muscle fibers [HPO term]
- Respiratory insufficiency [HPO term]
- Retinal pigment epithelial mottling [HPO term]
- Scapular winging [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Sensory ataxia [HPO term]
- Sensory ataxic neuropathy [HPO term]
- Sensory axonal neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Subsarcolemmal accumulations of abnormally shaped mitochondria [HPO term]
- Vestibular dysfunction [HPO term]
- Weakness of facial musculature [HPO term]
- Weight loss [HPO term]
ORDO concept(s)
- Progressive myoclonic epilepsy type 5 [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- Spinocerebellar ataxia with epilepsy [ORDO Disease]
See also inter- (CISMeF)
- POLG wt Allele [NCIt concept]
- ataxia neuropathy spectrum [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome (disorder) [SNOMED CT concept]
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [MeSH concept]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [MeSH Supplementary Concept]
- sensory ataxic neuropathy, dysarthria, and ophthalmoparesis [DO Concept]
Validated automatic mappings to BTNT
- Progressive myoclonic epilepsy type 5 [ORDO Disease]
- Spinocerebellar ataxia with epilepsy [ICD-11 More detail]
- Spinocerebellar ataxia with epilepsy [ORDO Disease]

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