Rippling muscle disease

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.

Myopathy

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.


Total: 5

                       


(per page)
PMID (PMCID)
22245016
(3359497)
 MALE Middle Aged
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.
Ricci G, Scionti I, Ali G, Volpi L, Zampa V, Fanin M, Angelini C, Politano L, Tupler R, Siciliano G.
Neuromuscul Disord. 2012;22(6):534-40.
We report the first case of a heterozygous T78M mutation in the caveolin-3 gene (CAV3) associated with rippling muscle disease and proximal myopathy.
21404291
 MIXED_SAMPLE Adult
Rippling is not always electrically silent in rippling muscle disease.
Maki T, Matsumoto R, Kohara N, Kondo T, Son I, Mezaki T, Nishino I, Ikeda A, Takahashi R.
Muscle Nerve. 2011;43(4):601-5.
Rippling muscle disease (RMD) is a myopathy with hyperirritability, the pathophysiology for which is uncertain.We report electromyographic findings in a 30-year-old man with RMD.
17524427
 MIXED_SAMPLE Adult
A novel in-frame deletion in the CAV3 gene in a Korean patient with rippling muscle disease.
Bae JS, Ki CS, Kim JW, Suh YL, Park MS, Kim BJ, Kim SJ.
J Neurol Sci. 2007;260(1-2):275-8.
Rippling muscle disease (RMD) is a rare form of myopathy that is characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling.
17405141
 FEMALE
A novel missense mutation in the caveolin-3 gene in rippling muscle disease.
Lorenzoni PJ, Scola RH, Vieira N, Vainzof M, Carsten AL, Werneck LC.
Muscle Nerve. 2007;36(2):258-60.
Rippling muscle disease (RMD) is a benign myopathy with symptoms and signs of muscular hyperirritability.
8574358
 MALE Middle Aged
Intermittent esotropia associated with rippling muscle disease.
Kosmorsky GS, Mehta N, Mitsumoto H, Prayson R.
J Neuroophthalmol. 1995;15(3):147-51.
We report a rare myopathy known as rippling muscle disease, with the unique feature of extraocular muscle involvement, presenting as a variable esotropia.