1. Progressive myoclonic ataxia without ragged red fibres: Unverricht-Lundborg disease vs Ramsay Hunt syndrome.
- Author
-
Shakir RA, Khan RA, and al-Zuhair AG
- Subjects
- Adolescent, Adult, Consanguinity, Diagnosis, Differential, Epilepsies, Myoclonic diagnosis, Epilepsies, Myoclonic genetics, Epilepsy, Tonic-Clonic diagnosis, Epilepsy, Tonic-Clonic genetics, Female, Humans, Inclusion Bodies ultrastructure, Kuwait, Male, Mitochondria, Muscle ultrastructure, Muscles pathology, Myoclonic Cerebellar Dyssynergia diagnosis, Myoclonus diagnosis, Neurologic Examination, Spinocerebellar Degenerations diagnosis, Myoclonic Cerebellar Dyssynergia genetics, Myoclonus genetics, Spinocerebellar Degenerations genetics
- Abstract
We describe eight patients from three families presenting with myoclonus, ataxia, infrequent seizures and minimal intellectual impairment. All were Arabs from different parts of the Arabian peninsula. The new consensus on terminology, genetic and clinical definition of Baltic myoclonus, Ramsay Hunt syndrome and Unverricht-Lundborg disease suggests that our group are best categorised under the term of progressive myoclonic ataxia of the Unverricht-Lundborg type. Moreover, this report reinforces the existence of this syndrome outside Scandinavia.
- Published
- 1992
- Full Text
- View/download PDF