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2 patient data entries in database for mutations R807C and P648R. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 150 | R807C3
| P648R5
| Onset at 39 years with SANDO. | | | 39 | n/a | n/a | Ferreira et al, 2011; [view data] | | 261 | R807C3
| P648R5
| Man presented at age 39 progressive bilateral ptosis, unsteadiness gait and muscle weakness with difficulty in dressing and lifting objects. Three years later he noticed dysphagia and diplopia and sought medical advice. Neurological examination revealed droopy eyes which worsened after repeated eye movements and external ophthalmoparesis with diplopia on horizontal gaze. The patient also presented fluctuant dysarthria and dysphagia which worsened at the end of the day. There was distal limb muscles weakness with reduced deep tendon reflexes. Perception of vibration and position was absent below the iliac crests. Touch, pain and temperature senses were preserved. Signs of cerebellar dysfunction were also evident. Romberg sign was positive. multiple mtDNA deletions in muscle Summary: Sensory ataxia with neuropathy, dysarthria and ophthalmoparesis represent the clinical triad of SANDO | | - | movement disorder (ataxia) | |
| | 39 | n/a | 44 | Gago et al, 2006; [view data] |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 39.0
Std dev in onset in displayed cases: 0.0
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