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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 Chines …
Similar to previous reports, myotonia involved limb, lids, masticatory, and trunk muscles to varying degrees. Warm-up phenomenon (5/6), p …
Drug treatment for myotonia.
Trip J, Drost G, van Engelen BG, Faber CG. Trip J, et al. Cochrane Database Syst Rev. 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. Cochrane Database Syst Rev. 2006. PMID: 16437496 Free PMC article. Review.
Secondary outcome measures were:(1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of percussion myotonia; and (5) proportion of adverse events. DATA COLLECTION AND ANALYSIS: Two authors extracted the data independently …
Secondary outcome measures were:(1) clinical relaxation time; (2) electromyographic relaxation time; (3) stair test; (4) presence of perc …
Acute myotonic reaction during succinylcholine anaesthesia.
Mohammed SR, Gafoor S, Panday A. Mohammed SR, et al. Pract Neurol. 2023 Feb;23(1):74-77. doi: 10.1136/pn-2022-003352. Epub 2022 Oct 3. Pract Neurol. 2023. PMID: 36192135
Examination later showed she had shoulder, neck and calf hypertrophy, bilateral symmetrical ptosis and eyelid, handgrip and percussion myotonia. Peripheral neurophysiology studies identified significant, continuous myotonic discharges in both upper and lower limbs. …
Examination later showed she had shoulder, neck and calf hypertrophy, bilateral symmetrical ptosis and eyelid, handgrip and percussion …
Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y, Qiu Y, Xiong Y, Shen Y, Jiang K, Yi H, Huang P, Zhu Y, Zhu M, Zhou M, Hong D, Tan D. He Y, et al. Channels (Austin). 2024 Dec;18(1):2349823. doi: 10.1080/19336950.2024.2349823. Epub 2024 May 8. Channels (Austin). 2024. PMID: 38720415 Free PMC article.
The main symptom was muscle stiffness of limbs. Warm-up phenomenon and percussion myotonia were found in all patients. Electromyogram revealed significant myotonic charges in all patients and two asymptomatic carriers, while muscle MRI and biopsy showed normal or no …
The main symptom was muscle stiffness of limbs. Warm-up phenomenon and percussion myotonia were found in all patients. Electro …
A family with autosomal recessive generalised myotonia with Herculean appearance.
Sinha MK, Chaurasia RN, Verma R. Sinha MK, et al. J Assoc Physicians India. 2011 Feb;59:120-2. J Assoc Physicians India. 2011. PMID: 21751653
A 28-year-old male had history of stiffness in limb muscles, with hypertrophy of most muscle groups and both action and percussion myotonia. We report a very interesting rare family of brothers and sister of myotonia congenita, conforming to autosomal recessive tran …
A 28-year-old male had history of stiffness in limb muscles, with hypertrophy of most muscle groups and both action and percussion …
Case-of-the-month: autosomal recessive myotonia congenita: marked muscle weakness in a 16-year-old boy.
Miller RG, Buchthal F. Miller RG, et al. Muscle Nerve. 1992 Jan;15(1):111-3. doi: 10.1002/mus.880150119. Muscle Nerve. 1992. PMID: 1732755
There was marked weakness of neck flexors, shoulder abductors, and ankle dorsiflexors, with hypertrophy of most muscle groups and both action and percussion myotonia. The parents were normal. Motor unit potential mean duration was reduced in the weakest muscle (tibi …
There was marked weakness of neck flexors, shoulder abductors, and ankle dorsiflexors, with hypertrophy of most muscle groups and both actio …