In general, muscular dystrophies cause wasting and weakening of muscles. In limb-girdle muscular dystrophies the muscles in the shoulder and pelvic girdle (the large muscles around the top part of the arms and legs) are most affected. Early symptoms of limb-girdle muscular dystrophies include difficulty with running, climbing stairs, standing, and walking. As the disease progresses, it may become difficult for some patients to do activities that require the arms to be raised for a duration (e.g., combing hair).
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.
Symptoms in both Myoshi myopathy and limb-girdle muscular dystrophy type 2B may affect one side more than the other. While these conditions differ in the initial distribution of muscle involvement, as they progress there is little clinical difference between them. There is no significant difference in the rate of progression between them and progression is typically slow.
In a recent study of 40 patients with dysferlin gene mutations by Nguyen et al., 50% of the patients were diagnosed as having typical Miyoshi myopathy or Limb-girdle muscular dystrophy type 2B. Unusual phenotypes included a mixed phenotype, which the authors referred to as "proximodistal." Thirty-five percent of the patients had this phenotype and had a combination of distal and proximal onset. Two other phenotypes included a "pseudometabolic myopathy" and "asymptomatic hyperCKemia" which were found in 10% and 5% of the patients respectively.
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
New Directions in Biology and Disease of Skeletal Muscle
Sunday, June 29, 2014 -
Wednesday, July 2, 2014
Location: Chicago, IL
Description: The goals of the New Directions conference are to: (1) provide a unique forum for presentation and sharing of unpublished data, (2) promote collaboration between industry and academic investigators, (3) provide an interactive forum for clinical trial planning and outcome measure development, (4) facilitate the identification of both common and unique targets for each neuromuscular disease, and (5) provide trainees and young investigators a forum in which to present data and to encourage trainees to remain studying neuromuscular disease.
Contact: Dr. John D. Porter, 301-496-5739,firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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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