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  • SANDO (Sensory Ataxic Neuropathy, Dysarthria, Ophthalmoparesis)
    Genetic Neuromuscular Disorders, 2014
    Co-Authors: Corrado Angelini
    Abstract:

    The term “SANDO” (originating from the acronym of sensory ataxic neuropathy, dysarthria, Ophthalmoparesis) is used to describe a syndrome characterized by an adult-onset and severe form of sensory ataxic neuropathy, dysarthria, and chronic progressive external ophthalmoplegia, which results from mitochondrial dysfunction and is due to mtDNA depletion in muscle and peripheral nerve. The phenotype is largely variable: The common clinical feature appears to be sensory ataxia, and other symptoms include myopathy, seizures, hearing loss, progressive gait unsteadiness, absent deep tendon reflexes, Romberg’s sign, decreased sense of vibration, and detection of ragged-red fibers on muscle biopsy. The syndrome is due to mutations in the POLG1 gene (Table 59.1), encoding polymerase gamma.

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