||||||||||
syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese (aandoening)
syndroom van sensorische atactische neuropathie, dysartrie en oftalmoparese
syndroom van sensorische atactische neuropathie, dysartrie en oftalmoplegie
SANDO
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis syndrome
SANDO (sensory ataxic neuropathy dysarthria ophthalmoparesis) syndrome
This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other 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. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes. This syndrome has characteristics of adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia. The prevalence is unknown. Other 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 fibers on muscle biopsy. The syndrome is associated with mitochondrial DNA mutations in either the POLG1 or TWINKLE genes.
Id717266001
StatusPrimitive
Clinical courseprogressief
Occurrencevolwassenheid
DHD Diagnosethesaurus-referentieset
DHD Verrichtingenthesaurus-referentieset
referentieset met complexe 'mapping' naar ICD-10
TargetG60.2
RuleTRUE
AdviceALWAYS G60.2
CorrelationSNOMED CT source code to target map code correlation not specified
TargetR47.1
RuleTRUE
AdviceALWAYS R47.1
CorrelationSNOMED CT source code to target map code correlation not specified
TargetH49.4
RuleTRUE
AdviceALWAYS H49.4
CorrelationSNOMED CT source code to target map code correlation not specified