Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis

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OMIM 57 607459 Orphanet 59 ORPHA254881 ORPHA70595 ORPHA94125 UMLS via Orphanet 74 C1843851 C1843852 MESH via Orphanet 45 C537583 ICD10 via Orphanet 34 G71.3 G11.8

MedGen 42 C1843851 C1843852 C3151194 MeSH 44 D015417 D013132 D020191 SNOMED-CT via HPO 69 258211005 60700002 11934000 128306009 193570009 247053007 46252003 16110005 563001 25786006 277843001 21061000119107 35489007 78667006 21983002 128613002 246545002 313307000 84757009 91175000 8011004 405946002 349006 37280007 22325002 127324008 17450006 195021004 399020009 288939007 40739000 37796009 25064002 298310004 130980003 196753007 235675006 249939004 235825006 715201005 164931005 76388001 386806002 more UMLS 73 C1843851 C3683791 C1843852 C3151194 more

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 70595Disease definitionSensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.EpidemiologyThe prevalence is unknown.Clinical descriptionOther common features include progressive gait unsteadiness, absent deep tendon reflexes, the presence of Romberg's sign, a decreased sense of vibration and proprioception and detection of red ragged fibres on muscle biopsy.EtiologyThe syndrome is associated with mitochondrial DNAmutations in either the POLG1 or TWINKLE genes.Genetic counselingAutosomal recessive and dominant inheritance, as well as sporadic occurrence, have been suggested.Visit the Orphanet disease page for more resources.

MalaCards based summary : Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as mitochondrial recessive ataxia syndrome, is related to myoclonic epilepsy myopathy sensory ataxia and progressive myoclonic epilepsy type 5, and has symptoms including ophthalmoplegia An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include skeletal muscle, spinal cord and thyroid, and related phenotypes are seizures and dysarthria

OMIM : ⁵⁷ SANDO is an autosomal recessive systemic disorder characterized mainly by adult onset of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) resulting from mitochondrial dysfunction and associated with mtDNA depletion in skeletal muscle and peripheral nerve tissue (Fadic et al., 1997). The phenotype varies widely, even within the same family, and can include myopathy, seizures, and hearing loss, but the common clinical feature appears to be sensory ataxia (review by Milone and Massie, 2010). Spinocerebellar ataxia with epilepsy (SCAE) is a similar disorder with a higher frequency of migraine headaches and seizures (Winterthun et al., 2005). (607459)

UniProtKB/Swiss-Prot : ⁷⁵ Sensory ataxic neuropathy dysarthria and ophthalmoparesis: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. Spinocerebellar ataxia with epilepsy: An autosomal recessive syndrome characterized by headaches and/or seizures manifesting in childhood or adolescence, cerebellar and sensory ataxia, dysarthria, and myoclonus manifesting in early adulthood. Neuropathological findings include spinocerebellar degeneration associated with cortical neuronal degeneration in advanced cases.

Clinical features from OMIM:

607459

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