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Genetic and Rare Diseases Information Center (GARD)


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Your Question

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?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What are dysferlinopathies?

Dysferlinopathies are muscular dystrophies caused by mutations in the dysferlin gene. Examples of dysferlinopathies include limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.[1]
Last updated: 7/12/2013

What diseases are associated with mutations in the dysferlin gene?

Dysferlin instructs the body to make a skeletal muscle protein. The protein is thought to be involved in muscle contraction and possibly membrane regeneration and repair.[2] Mutations in the dysferlin gene cause several muscular dystrophy conditions, including limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.[3]
Last updated: 7/12/2013

How is dysferlinopathy inherited?

Dysferlinopathy is inherited in an autosomal recessive pattern.[4]
Last updated: 10/18/2013

What are the symptoms of dysferlinopathies?

The symptoms associated with dysferlinopathies are highly variable.[1] Some patients have no symptoms, while others develop severe functional disability.[1] Miyoshi myopathy and limb-girdle muscular dystrophy type 2B are two common forms of dysferlinopathy. We have summarized symptoms of these conditions below.

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.[5] Early symptoms of limb-girdle muscular dystrophies include difficulty with running, climbing stairs, standing, and walking.[6] 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).[6]

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.[4]

Symptoms in both Myoshi myopathy and limb-girdle muscular dystrophy type 2B may affect one side more than the other.[4] While these conditions differ in the initial distribution of muscle involvement, as they progress there is little clinical difference between them.[7][1] 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 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.[1]

Last updated: 7/12/2013

What is the prognosis for patients with a dysferlinopathy?

In a previous series of patients with Miyoshi myopathy, 8 of 24 required a wheelchair after a 10-year-disease duration. This was similar to the findings of the Nguyen et al. study of 40 patients with dysferlinopathy. In addition Nguyen et al., observed few patients with a severe course of the disease. The most severe case they observed worsened over 5 years from a proximodistal onset to complete loss of ambulation, also with severe upper limb and axial weakness. The most mild case observed was of a 58-year-old man who was asymptomatic with isolated hyperCKemia.[1]

In the Nguyen et al. study, muscle inflammation, leading to a misdiagnosis of polymyositis, tended to correlate with a more severe course of disease, and they found that inflammation was most frequent in the patients with the proximodistal phenotype that they observed.[1]
Last updated: 7/12/2013

Can a dysferlinopathy cause spine curvature and weight loss?

Curvature of the spine (scoliosis) and muscle atrophy can occur as a complication of a dysferlinopathy.[8] However in a recent small study of 40 individuals with limb girdle muscular dystrophy (LGMD) 2B and confirmed mutations in the dysferlin gene, no patients were found to have scoliosis or kyphosis.[9]

Diffuse muscle atrophy can give the appearance of thinning of the body. Patients with dysferlinopathy should disucss their concerns regarding the symptoms they are experiencing with their health care provider.
Last updated: 10/17/2013

Do dysferlinopathies typically affect the muscles of the face?

No. In dysferlinopathies the muscles of the face are usually unaffected.[5][7]
Last updated: 7/12/2013

Are patients with a dysferlinopathy able to feed themselves?

The severity of symptoms experienced by patients with a dysferlinopathy varies from patient to patient. Patients who are more severely affected may have difficulty feeding themselves as their disease progresses.
Last updated: 10/17/2013

How can I learn about research involving dysferlinopathies?

The U.S. National Institutes of Health, through the National Library of Medicine, developed to provide patients, family members, and members of the public with current information on clinical research studies.

The National Institute of Neurological Disorders and Stroke (NINDS) is the primary NIH Institute conducting research into the muscular dystrophies, we recommend that you contact NINDS for additional information about current research projects involving dysferlinopathies.

Several organizations, including the Muscular Dystrophy Association and Muscular Dystrophy Campaign support ongoing investigations for muscular dystrophies. To learn more about how you can become involved in clinical research from these organizations and more, please see the Research section of this webpage.
Last updated: 7/16/2013

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 5/18/2016

See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.