U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Search results

Items: 2

1.

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita (PMC) is an autosomal dominant myotonic disorder characterized by cold-induced prolonged localized muscle contraction and weakness. Patients may experience episodes of generalized weakness (periodic paralysis) unassociated with cold exposure (summary by Ptacek et al., 1992). [from OMIM]

MedGen UID:
113142
Concept ID:
C0221055
Disease or Syndrome
2.

Paradoxical myotonia

A type of myotonia that worsens with repeated muscle contractions. [from HPO]

MedGen UID:
868774
Concept ID:
C4023179
Disease or Syndrome

Supplemental Content

Find related data

Search details

See more...

Recent activity