Ocular myopathy with curare sensitivity

Preferred Label : Ocular myopathy with curare sensitivity;

Type : Phenotype or locus, molecular basis unknown;

Description : In an inbred kindred of south India, Mathew et al. (1970) observed 9 persons with static ophthalmoparesis beginning in childhood. Oropharyngeal weakness was not associated, but limb weakness was noted in 2. There was no response to neostigmine or echophonium, and the response to tetanic stimulation of the ulnar nerve was normal. For these reasons the authors regarded the condition as an ocular myopathy and not a form of myasthenia gravis, despite the fact that all subjects were as sensitive to tubocurarine as patients with myasthenia gravis. The pedigree is convincingly that of an autosomal recessive. Two asymptomatic presumed heterozygotes showed sensitivity to tubocurarine. *FIELD* RF 1. Mathew, N. T.; Jacob, J. C.; Chandy, J.: Familial ocular myopathy with curare sensitivity. Arch. Neurol. 22: 68-74, 1970. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : %257600;

Details

Origin ID

257600;

UMLS CUI

C1850341;

Currated CISMeF NLP mapping
- ocular myopathy with curare sensitivity [MeSH concept]
- ocular myopathy with curare sensitivity [MeSH Supplementary Concept]
HPO term(s)
- Abnormality of metabolism/homeostasis [HPO term]
- Autosomal recessive inheritance [HPO term]
- Childhood onset [HPO term]
- Juvenile onset [HPO term]
- Limb muscle weakness [HPO term]
- Myopathy [HPO term]
- Static ophthalmoparesis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ocular myopathy with curare sensitivity [MeSH Supplementary Concept]
- ocular myopathy with curare sensitivity [MeSH concept]

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