In general, muscular dystrophies cause wasting and weakening of muscles. In limb-girdle muscular dystrophies the muscles in the shoulder and
In Myoshi myopathy, early symptoms are most pronounced in the distal parts of the legs (i.e., the calf muscles). Patients experience weakness and atrophy in these muscles which may make it difficult for them to stand on tiptoe. As the disease progresses the muscle weakness and atrophy may spread to the thighs and gluteal muscles, forearms, and shoulder girdle muscles, which can result in additional symptoms including difficulty climbing stairs, standing, and walking, as well as a decrease in grip strength.[6]
Symptoms in both Myoshi myopathy and limb-girdle muscular dystrophy type 2B may affect one side more than the other.[6] While these conditions differ in the initial distribution of muscle involvement, as they progress there is little clinical difference between them.[7][2] There is no significant difference in the rate of progression between them and progression is typically slow.[7]
In a recent study of 40 patients with dysferlin
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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I would like to know whether current research is finding ways to treat or cure this disease.What symptoms may people experience as their disease progresses? The likely progression of the disease may influence my decision to have more children. Are losing weight and a spine that is curving inward due to dysferlinopathy? Does dysferlinopathy affect the muscles of the face? Are patients able to feed themselves? See answer
