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Percussion myotonia

MedGen UID:
148293
Concept ID:
C0751359
Finding
Synonyms: Myotonia, Percussion; Myotonias, Percussion; Percussion Myotonia; Percussion Myotonias
 
HPO: HP:0010548

Definition

A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object). [from HPO]

Conditions with this feature

Paramyotonia congenita of Von Eulenburg
MedGen UID:
113142
Concept ID:
C0221055
Disease or Syndrome
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).
Congenital myotonia, autosomal recessive form
MedGen UID:
155852
Concept ID:
C0751360
Disease or Syndrome
Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.
Brody myopathy
MedGen UID:
371441
Concept ID:
C1832918
Disease or Syndrome
Brody disease (BROD) is an autosomal recessive skeletal muscle disorder characterized by exercise-induced muscle stiffness and cramps primarily affecting the arms, legs, and eyelids, although more generalized muscle involvement may also occur. Symptom onset is most often in the first decade, but many patients present and are diagnosed later in life. Skeletal muscle biopsy typically shows variation in fiber size, increased internal nuclei, and atrophy of type II muscle fibers. Rare patients have been reported to develop malignant hyperthermia after administration of anesthesia, suggesting that patients with the disorder should be tested. The disorder results from defective relaxation of fast-twitch (type II) skeletal muscle fibers due to defects in calcium homeostasis and reuptake in the muscle fiber (summary by Odermatt et al., 2000 and Molenaar et al., 2020).
Potassium-aggravated myotonia
MedGen UID:
444151
Concept ID:
C2931826
Disease or Syndrome
In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.
Congenital myotonia, autosomal dominant form
MedGen UID:
422446
Concept ID:
C2936781
Disease or Syndrome
Myotonia congenita is characterized by muscle stiffness present from childhood; all striated muscle groups including the extrinsic eye muscles, facial muscles, and tongue may be involved. Stiffness is relieved by repeated contractions of the muscle (the "warm-up" phenomenon). Muscles are usually hypertrophic. Whereas autosomal recessive (AR) myotonia congenita is often associated with more severe manifestations (such as progressive minor distal weakness and attacks of transient weakness brought on by movement after rest), autosomal dominant (AD) myotonia congenita is not. The age of onset varies: in AD myotonia congenita onset is usually in infancy or early childhood; in AR myotonia congenita the average age of onset is slightly older. In both AR and AD myotonia congenita onset may be as late as the third or fourth decade of life.
Schwartz-Jampel syndrome type 1
MedGen UID:
1647990
Concept ID:
C4551479
Disease or Syndrome
Schwartz-Jampel syndrome type 1 (SJS1) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. Affected individuals usually present in childhood with permanent muscle stiffness or bone deformities. Common clinical features include mask-like facies (narrow palpebral fissures, blepharospasm, and pursed lips); permanent muscle stiffness with continuous skeletal muscle activity recorded on electromyography; dwarfism; pectus carinatum; kyphoscoliosis; bowing of long bones; and epiphyseal, metaphyseal, and hip dysplasia. The disorder is slowly progressive but does not appear to alter life span (summary by Stum et al., 2006).
Myofibrillar myopathy 10
MedGen UID:
1769385
Concept ID:
C5436656
Disease or Syndrome
Myofibrillar myopathy-10 (MFM10) is an autosomal recessive structural muscle disorder characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life. Some patients have mild contractures of the large joints apparent in early childhood. Affected individuals have a characteristic appearance of a thick neck and prominent shoulder girdle with anteverted shoulders and a tendency toward kyphosis. There is no apparent muscle weakness, but some affected individuals show progressive muscle rigidity leading to limited mobility. There is variable cardiac involvement, ranging from chest pain with left ventricular hypertrophy to subclinical signs such as abnormal EKG or elevated cardiac enzymes. Skeletal muscle biopsy shows structural abnormalities with myofibrillar disorganization and accumulation of autophagocytic vacuoles (summary by Hedberg-Oldfors et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of myofibrillar myopathy, see MFM1 (601419).
Mitochondrial complex IV deficiency, nuclear type 23
MedGen UID:
1840958
Concept ID:
C5830322
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 23 (MC4DN23) is an autosomal recessive disorder characterized by infantile-onset encephalopathy (Rius et al., 2022). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

Recent clinical studies

Etiology

He Y, Qiu Y, Xiong Y, Shen Y, Jiang K, Yi H, Huang P, Zhu Y, Zhu M, Zhou M, Hong D, Tan D
Channels (Austin) 2024 Dec;18(1):2349823. Epub 2024 May 8 doi: 10.1080/19336950.2024.2349823. PMID: 38720415Free PMC Article
Mohammed SR, Gafoor S, Panday A
Pract Neurol 2023 Feb;23(1):74-77. Epub 2022 Oct 3 doi: 10.1136/pn-2022-003352. PMID: 36192135
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X
Channels (Austin) 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. PMID: 35170402Free PMC Article
Sinha MK, Chaurasia RN, Verma R
J Assoc Physicians India 2011 Feb;59:120-2. PMID: 21751653
Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

Diagnosis

Mohammed SR, Gafoor S, Panday A
Pract Neurol 2023 Feb;23(1):74-77. Epub 2022 Oct 3 doi: 10.1136/pn-2022-003352. PMID: 36192135
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X
Channels (Austin) 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. PMID: 35170402Free PMC Article
Banerjee A, Sharawat IK, Saini AG, Suthar R
J Pediatr 2019 Feb;205:286. Epub 2018 Oct 12 doi: 10.1016/j.jpeds.2018.09.011. PMID: 30322702
Romeo V
Adv Exp Med Biol 2012;724:239-57. doi: 10.1007/978-1-4614-0653-2_18. PMID: 22411247
Gulati S, Kabra M, Gera S, Kalra V, Saxena R, Verma IC
Indian J Pediatr 2001 May;68(5):451-3. doi: 10.1007/BF02723026. PMID: 11407162

Therapy

Mohammed SR, Gafoor S, Panday A
Pract Neurol 2023 Feb;23(1):74-77. Epub 2022 Oct 3 doi: 10.1136/pn-2022-003352. PMID: 36192135
Kitsis EA, Napier F, Juthani V, Geyer HL
BMJ Case Rep 2019 Aug 28;12(8) doi: 10.1136/bcr-2019-229611. PMID: 31466972Free PMC Article
Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd
Neurology 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a. PMID: 20439846Free PMC Article
Dupré N, Chrestian N, Bouchard JP, Rossignol E, Brunet D, Sternberg D, Brais B, Mathieu J, Puymirat J
Neuromuscul Disord 2009 May;19(5):330-4. Epub 2008 Mar 11 doi: 10.1016/j.nmd.2008.01.007. PMID: 18337100
Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

Prognosis

Elaraby NM, Ahmed HA, Dawoud H, Ashaat NA, Azmy A, Galal ER, Elhusseny Y, Awady HE, Metwally AM, Ashaat EA
Mol Biol Rep 2024 Jun 15;51(1):766. doi: 10.1007/s11033-024-09646-8. PMID: 38877370
Igreja L, Ribeiro L, Cardoso M, Vasconcelos C, Santos E
Neurologist 2023 Jan 1;28(1):54-56. doi: 10.1097/NRL.0000000000000438. PMID: 35442941
Mathew T, Sinha S, Taly AB, Arunodaya GR, Srikanth SG
Neurol India 2005 Sep;53(3):339-41. doi: 10.4103/0028-3886.16938. PMID: 16230807

Clinical prediction guides

Elaraby NM, Ahmed HA, Dawoud H, Ashaat NA, Azmy A, Galal ER, Elhusseny Y, Awady HE, Metwally AM, Ashaat EA
Mol Biol Rep 2024 Jun 15;51(1):766. doi: 10.1007/s11033-024-09646-8. PMID: 38877370
Li Y, Li M, Wang Z, Yang F, Wang H, Bai X, Sun B, Chen S, Huang X
Channels (Austin) 2022 Dec;16(1):35-46. doi: 10.1080/19336950.2022.2041292. PMID: 35170402Free PMC Article
Logigian EL, Martens WB, Moxley RT 4th, McDermott MP, Dilek N, Wiegner AW, Pearson AT, Barbieri CA, Annis CL, Thornton CA, Moxley RT 3rd
Neurology 2010 May 4;74(18):1441-8. doi: 10.1212/WNL.0b013e3181dc1a3a. PMID: 20439846Free PMC Article
Izumi Y, Fukuuchi Y, Koto A, Nakajima S
Keio J Med 1994 Jun;43(2):94-7. doi: 10.2302/kjm.43.94. PMID: 8089960
Valenstein E, Watson RT, Parker JL
Neurology 1978 Nov;28(11):1130-4. doi: 10.1212/wnl.28.11.1130. PMID: 568731

Recent systematic reviews

Trip J, Drost G, van Engelen BG, Faber CG
Cochrane Database Syst Rev 2006 Jan 25;2006(1):CD004762. doi: 10.1002/14651858.CD004762.pub2. PMID: 16437496Free PMC Article

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