Condition 101 content is not available at this time, but we are continually updating the site. Please check back.
However, there may be experts who have treated this or similar conditions in our Find a Doctor section and research may be available in our Latest Advances section.
Jean-francois Desaphy practices in Bari, Italy. Desaphy is rated as an Elite expert by MediFind in the treatment of Amyotonia Congenita. They are also highly rated in 5 other conditions, according to our data. Their top areas of expertise are Amyotonia Congenita, Myotonia Congenita, Potassium-Aggravated Myotonia, and Paramyotonia Congenita.
Concetta Altamura practices in Bari, Italy. Altamura is rated as an Elite expert by MediFind in the treatment of Amyotonia Congenita. She is also highly rated in 4 other conditions, according to our data. Her top areas of expertise are Myotonia Congenita, Amyotonia Congenita, Potassium-Aggravated Myotonia, and Paramyotonia Congenita.
Paola Imbrici practices in Bari, Italy. Imbrici is rated as an Elite expert by MediFind in the treatment of Amyotonia Congenita. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Amyotonia Congenita, Myotonia Congenita, Potassium-Aggravated Myotonia, and Paramyotonia Congenita.
There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.
Summary: This study aims to determine the association between the pathological changes detected by ultrasound and those detected in MRI in muscle diseases of different etiologies.
Summary: In myotonia congenita (MC), mutations in the CLCN1 gene coding a key chloride channel expressed in muscle cells cause myotonia. On examination, the myotonia can be demonstrated as delayed muscle relaxation of muscle contractions after mechanical stimulations. Existing literature describe no muscle weakness in MC patients, however a recent muscle MRI study in non-dystrophic myotonia patients found ...