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What we are？
On May 1st 2019, we inaugurated a community group called the Association of Ullrich Congenital Muscular Dystrophy (AUCMD) to share information inside and outside the community about this particular disease. AUCMD consititutes the majority of patients and their families.
Our mottoes are "Interact Freely" and "Be together." We are willing to realize a better living environment for those who are in such difficult situation having sufficient help from others.
What we do？
At AUCMD, our major activities are as follows.
1. Understand and learn more about the disease
2. Share information between each other inside and outside the community
3. Offering a place and time for meetup
4.Cooperate with medical institutions and deepen the knowledge about the disease by conducting a study session
Who do we cooperate with？
Deepest thanks to all who have stand together with us by supporting in many approaches.
Especially we express our sincere thanks to Dr. Ishigaki (Tokyo Women's Medical University Department of Pediatrics Keiko Ishigaki, M.D, Ph.D. Associate Professor) for providing profound knowledge about the disease.
What is Ullrich Congenital Muscular Dystropohy？
Ullrich Congenital Muscular Dystrophy (UMCD) is a rare muscle condition that belongs to a group of disorders called collagen type 6-related myopathies. A collagen type 6 is a major protein that stabilize the function of skeletal muscles.
What is the diagnostic methods?
Generally, UMCD is diagosed as follows.
1. Muscle biopsy
2.Genetic test (Prenatal diagnosis)
3. MRI examination
Is there way to cure?
Currently, there is no curative therapy, therefore supportive treatment is necessarily considering the patients` progression of the disease. For example, early mobilization for physiotheraphy is one of the major supportive care to prevent severe joint contractures. Most importantly, in the first or second decade after birth, respiratory is needed in order to maintain or improve the patients` quality of life.
What kind of symptom does it have?
During infancy, difficulties are seen when breastfeeding because the weakness of facial muscles. Therefore, tube feeding will be needed depending on the situation. Other symptoms are founded such as a congential hip dislocation, high-arched palate, protusion of the calcaneus, transient kyphotic deformity, torticollis, and contractures particularly involving the elbows also knees. On the otherhand, the distal joints of the hands, ankles, toes, and fingers have hyperextensibility. Skin textures differ to others and frequently cause keloid when curing injuries.
How to get in touch?
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