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Ataxia Dystonia Seizures Tendon reflexes: Reduced Face: Dysmorphic Laboratory Brain MRI: Non-diagnostic EEG: Slowing NCV: No sensory responses in arms or legs EMG: Neurogenic Serum CK: Normal DNM1L variant: Encephalopathy + Spastic-Ataxia, Recessive Epidemiology: 4 patients, 2 families Genetics Mutations: Truncating or Missense Inheritance: Recessive Clinical Onset age: Birth to 1 year Development: Delayed Hypotonia Oculomotor apraxia Cerebellar: Dysarthria, Dysmetria Pyramidal signs Gait disorder Course: Progressive Laboratory Serum lactate: High with increased age Pathology CNS neurons: Large mitochondria or inclusions Peripheral nerve: Axon loss

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