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mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

SANDO is 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. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood.

OTHER NAME(S): sensory ataxic neuropathy dysarthria and ophthalmoparesis

ABREVIATION(S):
SANDO
SCAE

TYPE: psychomotor impairment, neurodegenerative disease, eye or vision problem

Related patway(s): DNA replication

DNAtraffic protein(s) related to disease: POLγ (POLG)

OMIM: 607459

Last modification date: July 28, 2011