loading...| Preferred Name |
Rippling muscle disease |
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| Synonyms |
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| Definitions |
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_97238 |
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| definition |
Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97238 |
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| hasDbXref |
OMIM:600332 OMIM:606072 ICD-11:8C71.Y UMLS:C1853698 ICD-10:G71.8 MedDRA:10069417 |
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| label |
Rippling muscle disease |
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| notation |
ORPHA:97238 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_97238 |
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| prefLabel |
Rippling muscle disease |
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