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Ocular myopathy with curare sensitivity

MedGen UID:
376764
Concept ID:
C1850341
Disease or Syndrome
Synonyms: Ocular Myopathy with Curare Sensitivity
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 257600

Clinical features

Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Limb muscle weakness
MedGen UID:
107956
Concept ID:
C0587246
Finding
Reduced strength and weakness of the muscles of the arms and legs.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding
Static ophthalmoparesis
MedGen UID:
870226
Concept ID:
C4024663
Disease or Syndrome

Recent clinical studies

Diagnosis

Robertson JA
Anaesthesia 1984 Mar;39(3):251-3. PMID: 6703294
Brown JC, Charlton JE
J Neurol Neurosurg Psychiatry 1975 Jan;38(1):27-33. PMID: 1117298Free PMC Article
Mathew NT, Jacob JC, Chandy J
Arch Neurol 1970 Jan;22(1):68-74. PMID: 5409602
Jacob JC, Varkey GP
Can Anaesth Soc J 1966 Sep;13(5):449-52. PMID: 5971185

Therapy

Robertson JA
Anaesthesia 1984 Mar;39(3):251-3. PMID: 6703294
Jacob JC, Varkey GP
Can Anaesth Soc J 1966 Sep;13(5):449-52. PMID: 5971185

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