Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis (SANDO)

Alias:

Sando

Mitochondrial Recessive Ataxia Syndrome

Recessive Mitochondrial Ataxia Syndrome

Progressive Myoclonic Epilepsy Type 5

Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome

Spinocerebellar Ataxia with Epilepsy

Miras

Epm5

Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions, Autosomal Recessive

Autosomal Recessive Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions

Sensory Ataxic Neuropathy with Mitochondrial Dna Deletions Autosomal Recessive

Progressive Myoclonic Epilepsy with Sensory Ataxic Neuropathy

Sensory Ataxic Neuropathy Dysarthria and Ophthalmoparesis

Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome

Progressive Myoclonus Epilepsy Type 5

Epilepsy, Progressive Myoclonic, 5

Epilepsy, Progressive Myoclonic 5

Ataxia Neuropathy Spectrum

Pme Type 5

Mscae

Scae

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis, also known as sando, is related to myoclonic epilepsy myopathy sensory ataxia and ptosis, and has symptoms including ophthalmoplegia An important gene associated with Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoparesis is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Primary ovarian insufficiency and Transcriptional activation of mitochondrial biogenesis. Affiliated tissues include skeletal muscle and spinal cord, and related phenotypes are seizure and ptosis

Related ID：

MALACARDS：SNS008

OMIM：607459

MESH：C537583