Edit concept Question Editor Create issue ticket

Generalized Myotonia of Thomsen

Myotonia congenita


Presentation

  • RESULTS The patients within our family case all presented esotropia, with or without a vertical oculomotor disorder.[unboundmedicine.com]
  • Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments[books.google.com]
  • The gene must be present in one parent or both parents for their child to have myotonia congenita. Myotonia congenita can be either an autosomal dominant or autosomal recessive disease.[mda.org.au]
  • However a more severe presentation tends to occur from autosomal recessive variants [ 14 ].[nature.com]
  • L. 2013 41 Botulinum toxin in myotonia congenita: it does not help against rigidity and pain. ( 24357052 ) Dressler D....Adib Saberi F. 2013 42 Stiffness as a presenting symptom of an odd clinical condition caused by multiple sclerosis and myotonia congenita[malacards.org]
Fishing
  • Fish , F. J. ( 1962 ). Schizophrenia . Bristol : John Wright & Son . Fish , F. J. ( 1964 ). “ The cycloid psychoses .” Comprehensive Psychiatry , 5 , 155 . Maas , O. , and Paterson , A.[cambridge.org]
Short Arm
  • Each chromosome has a short arm designated as “p” and a long arm identified by the letter “q”. Chromosomes are further subdivided into bands that are numbered. Therefore, “7q35” refers to band 35 on the long arm of chromosome 7.[rarediseases.org]
Muscle Contracture
  • contracture investigations on the malignant hyperthermia like episodes in myotonia congenita. ( 23639175 ) Hoppe K....Klingler W. 2013 37 Pathophysiologic and anesthetic considerations for patients with myotonia congenita or periodic paralyses. ( 23802937[malacards.org]

Treatment

  • Authors' conclusions: Due to insufficient good quality data and lack of randomised studies, it is impossible to determine whether drug treatment is safe and effective in the treatment of myotonia.[cochrane.org]
  • Management and treatment Treatment revolves around sodium channel blocking agents such as mexiletine, carbamazepine or diphenylhydantoin. The documents contained in this web site are presented for information purposes only.[orpha.net]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Treatment: There are no cures for any of the myotonic disorders, but most people learn to live comfortably with their symptoms without any kind of treatment.[medigoo.com]

Prognosis

  • What is the prognosis? Most cases of myotonia congenita are non-progressive and relatively non-limiting.[mda.org.au]
  • Prognosis The prognosis for individuals with ataxia and cerebellar/spinocerebellar degeneration varies depending on its underlying cause.[urmc.rochester.edu]
  • Prognosis The outlook depends on many factors, including when symptoms start (there is a poorer prognosis the earlier the symptoms begin), how bad the symptoms are and the quality of medical care.[drugs.com]
  • Prognosis Research into the biochemistry, neurobiology, and biophysics of central and peripheral nerves, heart and skeletal muscle, and the interactions between muscle and nerve to uncover the pathological process of Friedreich’s ataxia is being carried[brainfoundation.org.au]
  • There may be some discrepancy among medical professionals and families regarding the use of prenatal testing with the intention of pregnancy termination due to the relatively mild disease phenotype and good prognosis.[nature.com]

Etiology

  • Etiology Both forms of the disease (Thomsen myotonia and Becker myotonia) are caused by loss of function mutations in the gene encoding the chloride channel ( CLCN1 ) that plays a role in muscle cell repolarisation.[orpha.net]
  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.ro]

Epidemiology

  • Summary Epidemiology Prevalence is estimated at 1 between and 10/100,000. Clinical description Onset occurs early in life and affected individuals are often identified by family members within the first few months after birth.[orpha.net]
  • Myotonia congenita and myotonic dystrophy: descriptive epidemiological investigation in Turin, Italy (1955–1979). Neurol Sci. 1982;3:207–10. 9. Sun C, Tranebjaerg L, Torbergsen T, Holmgren G, Van Ghelue M.[nature.com]
  • Links: epidemiology clinical presentation cerebellar ataxia sensory ataxia classification of ataxia urgent referral for suspected brain tumour[gpnotebook.co.uk]
  • Relevant External Links for CLCN1 Genetic Association Database (GAD) CLCN1 Human Genome Epidemiology (HuGE) Navigator CLCN1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLCN1 No data available for Genatlas for CLCN1 Gene The skeletal[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • […] presenting with different clinical phenotypes. ( 23933576 ) Desaphy J.F....Conte Camerino D. 2013 36 In vitro muscle contracture investigations on the malignant hyperthermia like episodes in myotonia congenita. ( 23639175 ) Hoppe K....Klingler W. 2013 37 Pathophysiologic[malacards.org]
  • Physiology and pathophysiology of CLC-1: mechanisms of a chloride channel disease, myotonia. J Biomed Biotechnol. 2011;2011:685328. 4. Fialho D, Schorge S, Pucovska U, et al.[nature.com]
  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]
  • Pathophysiology The major pathophysiologic finding in Friedreich ataxia is a "dying back phenomena" of axons, beginning in the periphery with ultimate loss of neurons and a secondary gliosis.[emedicine.medscape.com]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • As per 3.2.1, no preventative options are available so genetic testing does not influence this aspect.[nature.com]
  • The goals of these studies are to increase scientific understanding of these disorders and to find ways to prevent, treat, and cure them. Additional Information OMIM Link[mda.org.au]
  • Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎[books.google.es]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!