Myotonia Congenita - PowerPoint PPT Presentation Description: hypertrophy often of gluteal and leg muscles with atrophy of forearm muscles ... face, tongue, pharyngeal muscles, hands and legs ... – PowerPoint PPT presentation Number of Views:1289 Avg [powershow.com]

Gourdon Biology PLoS biology 2019 The cryo-electron microscopy structure of human ClC-1 is presented, uncovering an architecture reminiscent of that of bovine Clc-K and CLC transporters and reveals a striking correlation between mutated residues and the [semanticscholar.org]

Image: “Differences in clinical presentation of adult DM1 and DM2” by Schoser B, Timchenko L. [lecturio.com]

The present study is to the best of our knowledge, the first family of Becker's variety of myotonia congenita that is being reported from India. [neurologyindia.com]

• Weakness

  […] develop fixed weakness 9 Lumpers vs. [powershow.com]

  They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms... [openmd.com]

  […] transient weakness ± progressive into 4 th decade ± progressive into 4 th decade ± focal atrophy (distal forearms and neck) ± focal atrophy (distal forearms and neck) a proportion develop fixed weakness a proportion develop fixed weakness 9 Lumpers vs [slideplayer.com]

  Even a defasciculating dose of a nondepolarizer can produce profound weakness. [aneskey.com]

  People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. [medlineplus.gov]

• Pain

  Several types have been identified: ● Thomsen disease [MIM 160 800, 118 425]: onset in childhood; the myotonia is primarily localized in the muscles of the limbs that are often hypertrophied; the crises are generally not painful. [sites.uclouvain.be]

  AD) absent family history older onset more severely affected 15-20 painful leg onset (vs. face/hands in AD) males more severely affected than females transient weakness progressive into 4th decade focal atrophy (distal forearms and neck) a proportion [powershow.com]

  AD) absent family history absent family history older onset older onset more severely affected ; 15-20% painful more severely affected ; 15-20% painful leg onset (vs. face/hands in AD) leg onset (vs. face/hands in AD) males ± more severely affected than [slideplayer.com]

  Speech problems and abdominal pain may improve with antimyotonia treatment. [clinicalgate.com]

  People with NDM can also feel pain in their muscles, although for some myotonia will be pain-free.4 Around half of people with NDM report feeling fatigue, which means excessive tiredness that may not be cured by rest. [unlockndm.eu]

• Falling

  However, a fall into cold water may render the person unable to move for the duration of submergence. As with myotonic goats, children are more prone to falling than adults, due to their impulsivity. [en.wikipedia.org]

  The girl too had generalized hypertrophy of muscles and percussion myotonia of the tongue and had severe myotonia of orbicularis oculi muscles after sneezing, manifesting since two years of age, and she sustained frequent falls while walking. [indianpediatrics.net]

  […] when learning to walk onset in infancy: stiffness noted with rolling over and crawling; frequent falls when learning to walk stiffness is painless and improves with activity stiffness is painless and improves with activity –stopped playing hockey as [slideplayer.com]

  […] repetition hypertrophy of thoracolumbar paraspinals, thigh and leg mild restriction of ankle dorsiflexion 6 37 yo male with lifelong muscle stiffness (father similarly affected) onset in infancy stiffness noted with rolling over and crawling frequent falls [powershow.com]

  Sizes of the repeats were determined from the appropriate markers.[3],[4] » Discussion The brunt of Becker's disease falls on the lower limbs, probably as a result of work hypertrophy, since the quadriceps and other muscles are in a continual state of [neurologyindia.com]

• Asymptomatic

  Thomsen pedigree P480L ) dominant mutations with reduced penetrance asymptomatic heterozygotes in AD pedigrees identical mutations in dominant and recessive pedigrees kindreds with unusual features modifying genes and/or environmental factors yet to be [powershow.com]

  Thomsen pedigree P480L ) –dominant mutations with reduced penetrance –asymptomatic heterozygotes in AD pedigrees –identical mutations in dominant and recessive pedigrees –kindreds with unusual features modifying genes and/or environmental factors yet [slideplayer.com]

  We report a family of brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety), where the brother presented with signs of myotonia and muscular hypertrophy, while his asymptomatic sister was found to [neurologyindia.com]

  We report a family of brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker′s variety), where the brother presented with signs of myotonia and muscular hypertrophy, while his asymptomatic sister was found to [bioline.org.br]

  Indeed, the mother who does not carry the third mutation is asymptomatic. The mode of inheritance of p.R105C and p.F167L indicates that both mutations are on the same allele and become pathogenic when in combination with p.Q812X. [nature.com]

• Sneezing

  After two months there was amelioration of eyelid myotonia after sneezing. [indianpediatrics.net]

  On direct enquiry he stated that if and when he sneezed, he assumed a grotesque countenance since his eyelids used to be tightly closed and the mouth would remain open along with the contraction of the forehead muscles. [neurologyindia.com]

  Characteristic symptoms may include difficulties relaxing hand grip; completely opening the eyes after forcibly closing them (e.g., following crying or sneezing); arising from a chair; starting to walk or run; climbing stairs; and/or arising from bed [rarediseases.org]

• Myopathy

  Synonyms English: Batten Turner Congenital Myopathy Batten-Turner Congenital Myopathy Becker Disease Congenital Myotonia Generalized Myotonia of Becker Generalized Myotonia of Thomsen Myopathy, Congenital Myotonia Congenita, Autosomal Dominant Myotonia [decs2018.bvsalud.org]

  Turner Congenital Myopathy — Myopathy, Congenital — Myotonia Levior — Generalized Myotonia of Thomsen — Thomsen Generalized Myotonia — Thomsens Disease — Disease, Thomsens — Thomsen's Disease — Disease, Thomsen's — Myotonia Congenita, Autosomal Dominant [mesh.kib.ki.se]

  Synonyms Batten Turner Congenital Myopathy Batten-Turner Congenital Myopathy Becker Disease Becker Generalized Myotonia Congenital Myotonia Disease, Becker Disease, Thomsen Disease, Thomsen's Disease, Thomsens Generalized Myotonia Generalized Myotonia [online-medical-dictionary.org]

  154 Brody myopathy 93 Myotonia Congenita, Autosomal Dominant 10 Myotonia Congenita, Autosomal Recessive 16 Myotonia with Skeletal Abnormalities and Mental Retardation 0 Native American myopathy 30 Potassium Aggravated Myotonia 20 [rgd.mcw.edu]

• Muscle Weakness

  People with Becker disease often experience temporary attacks of muscle weakness, particularly in the arms and hands, brought on by movement after periods of rest. They may also develop mild, permanent muscle weakness over time. [medlineplus.gov]

  They may include muscle stiffness, muscle weakness, and attacks of weakness brought on by movement after rest. There are two forms... [openmd.com]

  Muscle weakness and wasting are not prominent. [bioline.org.br]

  Muscle stiffness that gets better with activity, called a warm-up phenomenon. People with paramyotonia congenita and myotonic dystrophy type 2 don’t have this symptom. Pain. Weakness. [my.clevelandclinic.org]

  Cold is also a key trigger of myotonia, and muscle weakness after an episode of myotonia may last hours or sometimes days. [unlockndm.eu]

• Myalgia

  Ion Channel Myopathy, muscle weakness, and myalgias Myalgias Painful sensation in the muscles. [lecturio.com]

  A case of Becker type congenital myotonia with myalgia [in Japanese]. Clin Neurol (Tokyo). 1989; : 1140-1143 Sunohara N. Tomi H. Nakamura A. Arahata K. Nonaka I. Myotonia congenita with painful muscle cramps. [nmd-journal.com]

  Becker disease usually appears later in childhood than Thomsen disease, and causes more severe myotonia, muscle stiffness and transient weakness.[3] Although myotonia in itself is not normally associated with pain, cramps or myalgia may develop.[3] People [en.wikipedia.org]

• Painful Muscle Cramps

  Myotonia congenita with painful muscle cramps. Intern Med. 1996; 35: 507-511 Hoffman E.P. Lehmann-Horn F. Rudel R. Overexcited or inactive: ion channels in muscle disease. Cell. 1995; 80: 681-686 Lehmann-Horn F. Rudel R. [nmd-journal.com]

  Muscle Nerve 1983;6:143-8. 7. Sunohara N, Tomi H, Nakamura A, Arahata K, Nonaka I. Myotonia congenital with painful muscle cramps. Intern Med 1996;35:507-11. 8. Wadia RS, Amin RB, Prayag SV, Chanratare SN, Sardesai HV. [neurologyindia.com]

  Muscle Nerve 1983;6:143-8. Back to cited text no. 6 7. Sunohara N, Tomi H, Nakamura A, Arahata K, Nonaka I. Myotonia congenital with painful muscle cramps. Intern Med 1996;35:507-11. Back to cited text no. 7 8. [bioline.org.br]

• Suggestibility

  The functional properties of heterodimeric channels suggest a weakly dominant effect, a finding that correlates with the inheritance pattern and symptom profile of myotonia levior. [ncbi.nlm.nih.gov]

  […] and piRNA Summary for LOC123956257 Gene Post-translational modifications for LOC123956257 Gene No Post-translational modifications No data available for DME Specific Peptides for LOC123956257 Gene No data available for Gene Families, Protein Domains, Suggested [genecards.org]

  The electrocardiogram and glucose tolerance test were within normal limits while the lateral view of the skull did not show small pituitary fossa or hyperostosis frontalis interna that could suggest dystrophia myotonica. [neurologyindia.com]

  Also, our data suggest that this is a rare mutation and probably restricted to the Costa Rican population. [scielo.sa.cr]

• Irritability

  Skull: Anatomy balding Gastrointestinal: Irritable bowel-like symptoms Dysphagia Dysphagia Dysphagia is the subjective sensation of difficulty swallowing. [lecturio.com]

  This ‘irritability’ of the muscle membrane manifests clinically as myotonia, an impaired relaxation of muscle following sudden, forceful contraction. [ncbi.nlm.nih.gov]

  Side-effects include kidney stone formation, parasthesia, nausea, confusion, mood irritability, depression, rash and liver function abnormalities. Regular monitoring of complete blood count and liver functions is recommended. [bioline.org.br]

• Seizure

  First-Generation Anticonvulsant Drugs, or phenytoin Phenytoin An anticonvulsant that is used to treat a wide variety of seizures. [lecturio.com]

  The disease of the present invention may be an epilepsy syndrome selected from generalized epilepsy with febrile seizures plus (GEFS+), severe myoclonic epilepsy in infancy (SMEI), benign familial neonatal infantile seizures (BNIFS), intractable childhood [brevets-patents.ic.gc.ca]

• Electromyogram Abnormal

  System Diseases Pathologic Function 115 16 0.100 None 0 1 Electromyogram abnormal phenotype Finding 130 12 0.100 None 0 Handgrip myotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 4 2 0.100 None 0 Muscle hypertrophy [disgenet.org]

Management and Treatment How is myotonia treated? Treatments for myotonia are specific to each type: Dystrophic myotonias Treatment of dystrophic myotonias depends on the symptoms. [my.clevelandclinic.org]

Because of the risks of hematological problems, tocainide is not recommended for the treatment of myotonia(4). Acetazolamide is useful in myotonia, but long term treatment can cause nephrolithiasis(5). [indianpediatrics.net]

Treatment Some cases of myotonia congenita do not require treatment. If necessary, however, symptoms of the disorder may be relieved with quinine, phenytoin, and mexiletine and other anticonvulsant drugs. [wikidoc.org]

Standard Therapies Treatment The treatment of Thomsen and Becker types myotonia congenita is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]

The diagnosis and treatment of myotonic disorders. [sites.uclouvain.be]

Prognosis Prognosis A prediction of the probable outcome of a disease based on a individual’s condition and the usual course of the disease as seen in similar situations. [lecturio.com]

Outlook / Prognosis What can I expect if I have myotonia? The outlook for myotonia depends on how severe your symptoms are and whether you have other conditions. In particular, periodic paralyses can become worse with age. [my.clevelandclinic.org]

[…] of the family of every child presenting with myotonia should undergo detailed screening clinically and be tested for trinucleotide repeats, since congenital myotonia, in comparison to myotonic dystrophy or congenital myotonic dystrophy carries better prognosis [neurologyindia.com]

Myotonic dystrophy: Etiology, clinical features, and diagnosis. UpToDate. Retrieved June 15, 2021, from https://www.uptodate.com/contents/myotonic-dystrophy-etiology-clinical-features-and-diagnosis Darras, B.T. (2021). [lecturio.com]

[citation needed] The warm-up phenomenon[edit] This phenomenon was described along with the disease by Thomsen in 1876 but its etiology remains unclear. [en.wikipedia.org]

Their etiology is unknown but may relate to the toxic effect of intranuclear accumulations of abnormally expanded RNA. Management of these brain symptoms is similar to that for DM1. [clinicalgate.com]

A test of strength is often used during a diagnosis of a muscular disorder before the etiology can be identified. The term subsumes two other more specific terms, true weakness and perceived weakness. [brevets-patents.ic.gc.ca]

Sequencing in patients with Myotonia Congenita. 5 Ferradini V...Sangiuolo F 28427807 2017 37 Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia. 5 Cassone M...Sangiuolo F 27639085 2017 38 A population-based epidemiologic [malacards.org]

[citation needed] Epidemiology[edit] In northern Scandinavia, the prevalence of myotonia congenita has been estimated at 1:10,000.[20] Myotonia congenita is estimated to affect 1 in 100,000 people worldwide.[21] Research[edit] The name Thomsen’s disease [en.wikipedia.org]

Epidemiology The most common muscular dystrophy Muscular Dystrophy Becker Muscular Dystrophy in people of European descent Prevalence Prevalence The total number of cases of a given disease in a specified population at a designated time. [lecturio.com]

[…] the steady-state open probability voltage-dependence towards more positive, non-physiological voltages.15 The purpose of this study was to characterize the entire coding region of the CLCN1 gene in a large cohort of Italian patients to define genetic epidemiology [nature.com]

For example, DM2 is as prevalent as DM1 in the studied population in Finland and Germany. [11] It is believed that DM mutations are not as prevalent in the Indian subcontinent; however, well-designed genetic epidemiological surveys are needed to better [bioline.org.br]

Pathophysiologic and anesthetic considerations for patients with myotonia congenital or periodic paralyses. [sites.uclouvain.be]

Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. Paediatr Anaesth. 2013;23:824–33. [PubMed: 23802937] Barchi R. The pathophysiology of excitation in skeletal muscle. [ncbi.nlm.nih.gov]

Cited by Defective Gating and Proteostasis of Human ClC-1 Chloride Channel: Molecular Pathophysiology of Myotonia Congenita. Jeng CJ, Fu SJ, You CY, Peng YJ, Hsiao CT, Chen TY, Tang CY. Jeng CJ, et al. [pubmed.ncbi.nlm.nih.gov]

Pathophysiology The molecular mechanisms leading to the manifestations of DM2 are believed to be similar to that in DM1, and relate to a toxic effect of the abnormally expanded RNA that accumulates in the muscle nuclei (see previous section on Pathophysiology [clinicalgate.com]

Molecular pathophysiology of voltage-gated ion channels. [nmd-journal.com]

Beginning in childhood, people with this condition experience bouts of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally. [medlineplus.gov]

Population Pyramids for patients Patients Individuals participating in the health care system for the purpose of receiving therapeutic, diagnostic, or preventive procedures. [lecturio.com]

Lacosamide effectively blocks exitotoxicity (Example 3) thus preventing the toxic effects of hyperexcitability. [brevets-patents.ic.gc.ca]

The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally. Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. [wikidoc.org]