Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports.
Acta Myol
; 30(3): 188-90, 2011 Dec.
Article
en En
| MEDLINE
| ID: mdl-22616202
ABSTRACT
Case histories of two unrelated patients suffering from sensory ataxic neuropathy, dysarthria/dysphagia and external ophthalmoplegia (SANDO) are reported. Both patients showed compound heterozygosity for POLG1 gene mutations, and presented with symptom of the clinical characteristics of SANDO. A patient with a p.A467T and p.W748S, well-known mutations showed a progressive course with early onset and multisystem involvement, including symptoms characteristics for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). The second patient showed a less well-known p.T251I and p.G848S mutations with late onset and dysphagia/dysarthria dominated, moderate symptoms. This later is the second published case history, when these POLG1 gene mutations are the possible background of late onset SANDO, dominantly presenting with bulbar symptoms.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Neuropatía Hereditaria Motora y Sensorial
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Oftalmoplejía
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Disartria
Límite:
Aged
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Año:
2011
Tipo del documento:
Article