myotonia.com.hr

UDRUGA MYOTONIA CONGENITA

Join us on Facebbook! The sound you have just heard is not the sound of a bomber but the so-called “myotonic roar”, the characteristic sound you hear during the EMG (electromyography) muscle test, with the persons who have congenital myotonia disease. The Association for Persons with Congenital Myotonia and Related Neuromuscular Diseases is registered with the State Administration Office of the City of Zagreb (Ured državne uprave grada Zagreba) and the inner structure is determined by its Statute. 8211; ...

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UDRUGA MYOTONIA CONGENITA | myotonia.com.hr Reviews

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Join us on Facebbook! The sound you have just heard is not the sound of a bomber but the so-called “myotonic roar”, the characteristic sound you hear during the EMG (electromyography) muscle test, with the persons who have congenital myotonia disease. The Association for Persons with Congenital Myotonia and Related Neuromuscular Diseases is registered with the State Administration Office of the City of Zagreb (Ured državne uprave grada Zagreba) and the inner structure is determined by its Statute. 8211; ...

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2 what is myotonia

3 about disease

4 types of disease

5 diagnosis

6 differential diagnosis

7 genetic testing

8 treatment

9 useful links

10 myotonia congenita

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UDRUGA MYOTONIA CONGENITA | myotonia.com.hr Reviews

https://myotonia.com.hr

Join us on Facebbook! The sound you have just heard is not the sound of a bomber but the so-called “myotonic roar”, the characteristic sound you hear during the EMG (electromyography) muscle test, with the persons who have congenital myotonia disease. The Association for Persons with Congenital Myotonia and Related Neuromuscular Diseases is registered with the State Administration Office of the City of Zagreb (Ured državne uprave grada Zagreba) and the inner structure is determined by its Statute. 8211; ...

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myotonia.com.hr

1

Diagnosis « UDRUGA MYOTONIA CONGENITA

http://www.myotonia.com.hr/en/diagnosis

Join us on Facebbook! Diagnosis of congenital myotonia is based upon characteristic clinical symptoms, but since this disease is very rare lot of physicians are not familiar with myotonia phenomenon they might attribute myotonic symptoms to the other, more common conditions. Electromyograph is characterized by high frequency discharges after inserting needle or voluntary muscle movement. ZAGREB, BUŽANOVA 6 D. Telefon/Phone Udruge : 01/ 2446 - 710. Fax Udruge : 01 / 4649 068.

2

What is myotonia? « UDRUGA MYOTONIA CONGENITA

http://www.myotonia.com.hr/en/what-is-myotonia

Join us on Facebbook! MYOTONIA CONGENITA (CONGENITAL MYOTONIA). The non-dystrophic myotonias are skeletal muscle ion channel disorders traditionally considered to be distinct from myotonic dystrophy because of the absence of progressive weakness and systemic features. This group of disorders involves: myotonia congenita and paramyotonia congenita with overall frequency of 1:100 000. From Greek: muscle; and. Congenital myotonia) is most common inherited myopathy of ion canals. Based upon type of inher...

3

Differential diagnosis « UDRUGA MYOTONIA CONGENITA

http://www.myotonia.com.hr/en/differential-diagnosis

Join us on Facebbook! Differential diagnosis of congenital myotonia includes disorders in which myotonia is the main symptom, and that are periodical paralyses, myotonic dystrophy and myotonias caused my drugs. Congenital myotonia can be distinguished from these disordes by:. Factors that provoke/ameliorate myotonia. Presence of symptoms outside skeletal system. ZAGREB, BUŽANOVA 6 D. Telefon/Phone Udruge : 01/ 2446 - 710. Fax Udruge : 01 / 4649 068. Web: www.myotonia.com.hr.

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Genetic testing « UDRUGA MYOTONIA CONGENITA

http://www.myotonia.com.hr/en/genetic-testing

Join us on Facebbook! Diagnosis of congenital myotonia can as well be confirmed my molecular genetic analysis of ClCN-1 gene responsible for function of ClC-1 channels. Risk to Family Members Autosomal Dominant Inheritance. Parents of a proband. The majority of individuals diagnosed with autosomal dominant myotonia congenita have an affected parent. Sibs of a proband. Offspring of a proband. Each child of an individual with autosomal dominant myotonia congenita has a 50% chance of inheriting the mutation.

5

Types of disease « UDRUGA MYOTONIA CONGENITA

http://www.myotonia.com.hr/en/types-of-disease

Join us on Facebbook! Autosomal-dominant Thomsen Congenital Myotonia. The first thorough description of myotonia congenita dates bask to 1876, when German physician Julius Thomsen, published a manuscript on a muscle ailment afflicting various members of his family including himself. In patients with Thomsen disease involvement of central nervous systems well as other organs has not been observed. Autosomal Recessive Becker Congenital Myotonia. The eponym for this disorder is in honor of German physician ...

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rijetke-bolesti.hr

Hrvatski Savez za rijetke bolesti » Članstvo

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Savez okuplja preko 650 individualnih članova oboljelih od rijetkih bolesti i članova njihovih obitelji te 22 neprofitne organizacije koje djeluju za dobrobit pacijenata oboljelih od rijetkih bolesti. Članstvo u Savezu je besplatno. Ukoliko se želite učlanite molimo da ispunite pristupnicu i vratite je mailom na: rijetke.bolesti@gmail.com, faksom na: 01/5534-905 ili poštom na: HSRB, Ivanićgradska 38, Zagreb. Pristupnica za individualne članove. DEBRA, društvo oboljelih od bulozne epidermolize. Adresa: Bu...

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myotonia.com.hr

UDRUGA MYOTONIA CONGENITA

Join us on Facebbook! The sound you have just heard is not the sound of a bomber but the so-called “myotonic roar”, the characteristic sound you hear during the EMG (electromyography) muscle test, with the persons who have congenital myotonia disease. The Association for Persons with Congenital Myotonia and Related Neuromuscular Diseases is registered with the State Administration Office of the City of Zagreb (Ured državne uprave grada Zagreba) and the inner structure is determined by its Statute. 8211; ...

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