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Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X. Li Y, et al. Channels (Austin). 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. Channels (Austin). 2022. PMID: 35170402 Free PMC article. Review.
Similar to previous reports, myotonia involved limb, lids, masticatory, and trunk muscles to varying degrees. Warm-up phenomenon (5/6), percussion myotonia (3/5), and grip myotonia (6/6) were common. Menstruation triggered myotonia in females, not observed in …
Similar to previous reports, myotonia involved limb, lids, masticatory, and trunk muscles to varying degrees. Warm-up phenomenon (5/6), p …
Mexiletine is an effective antimyotonia treatment in myotonic dystrophy type 1.
Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd. Logigian EL, et al. Neurology. 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a. Neurology. 2010. PMID: 20439846 Free PMC article. Clinical Trial.
METHODS: We performed 2 randomized, double-blind, placebo-controlled crossover trials, each involving 20 ambulatory DM1 participants with grip or percussion myotonia on examination. The initial trial compared 150 mg of mexiletine 3 times daily to placebo, and the se …
METHODS: We performed 2 randomized, double-blind, placebo-controlled crossover trials, each involving 20 ambulatory DM1 participants with gr …
Paramyotonia congenita without cold paralysis: a case report.
Izumi Y, Fukuuchi Y, Koto A, Nakajima S. Izumi Y, et al. Keio J Med. 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. Keio J Med. 1994. PMID: 8089960 Free article. Review.
Neurological examinations revealed no impairments of mental function, cranial nerves and sensory system. Muscular atrophy or hypertrophy was not observed. Percussion myotonia of the tongue and thenar muscles could be elicited at room temperature. ...
Neurological examinations revealed no impairments of mental function, cranial nerves and sensory system. Muscular atrophy or hypertrophy was …
Myokymia, muscle hypertrophy and percussion "myotonia" in chronic recurrent polyneuropathy.
Valenstein E, Watson RT, Parker JL. Valenstein E, et al. Neurology. 1978 Nov;28(11):1130-4. doi: 10.1212/wnl.28.11.1130. Neurology. 1978. PMID: 568731
Three unusual features were observed in a patient with chronic relapsing polyneuropathy: myokymia, muscle hypertrophy, and prolonged contraction in response to muscle percussion. ...
Three unusual features were observed in a patient with chronic relapsing polyneuropathy: myokymia, muscle hypertrophy, and prolonged …
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.
So YT, Zu L, Barraza C, Figueroa KP, Pulst SM. So YT, et al. Muscle Nerve. 2001 Mar;24(3):340-4. doi: 10.1002/1097-4598(200103)24:3<340::aid-mus1003>3.0.co;2-x. Muscle Nerve. 2001. PMID: 11353417
Muscle rippling, although distinctive, was present in only 6 of the 11 affected family members, whereas persistent muscle contraction to muscle percussion was present in all affected adults. Although this persistent contraction resembled percussion myotonia, it was …
Muscle rippling, although distinctive, was present in only 6 of the 11 affected family members, whereas persistent muscle contraction to mus …