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Myopathy, granulovacuolar lobular, with electrical myotonia

MedGen UID:
338114
•Concept ID:
C1850745
•
Disease or Syndrome
Synonym: Myopathy, Granulovacuolar Lobular, with Electrical Myotonia
 
Monarch Initiative: MONDO:0009701
OMIM®: 254950

Clinical features

From HPO
Muscle weakness
MedGen UID:
57735
•Concept ID:
C0151786
•
Finding
Reduced strength of muscles.
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Muscular atrophy
MedGen UID:
892680
•Concept ID:
C0541794
•
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
See: Feature record | Search on this feature
Myotonia
MedGen UID:
675119
•Concept ID:
C0700153
•
Finding
An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation.
See: Feature record | Search on this feature
Abnormality of metabolism/homeostasis
MedGen UID:
867398
•Concept ID:
C4021768
•
Finding
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Familial granulovacuolar lobular myopathy with electrical myotonia.
Juguilon A, Chad D, Bradley WG, Adelman L, Kelemen J, Bosch P, Munsat TL
J Neurol Sci 1982 Nov;56(2-3):133-40. doi: 10.1016/0022-510x(82)90136-8. PMID: 6294254

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