Dysferlinopathy

How is dysferlinopathy inherited?

Dysferlinopathy is inherited in an autosomal recessive pattern.

Last updated on 05-01-20

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. 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.

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 on 05-01-20

How can I learn about research involving dysferlinopathies?

The U.S. National Institutes of Health, through the National Library of Medicine, developed ClinicalTrials.gov 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 on 05-01-20

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 on 05-01-20

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. Mutations in the dysferlin gene cause several muscular dystrophy conditions, including limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, and distal anterior compartment myopathy.

Last updated on 05-01-20

Do dysferlinopathies typically affect the muscles of the face?

No. In dysferlinopathies the muscles of the face are usually unaffected.

Last updated on 05-01-20

What are dysferlinopathies?

Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting). The diseases in the group are:

  • Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to the feet (distal myopathy)
  • Limb-girdle muscular dystrophy type 2B (LGMD2B), where there is weakness and atrophy of the muscles of the pelvic and shoulder
  • Scapuloperoneal syndrome, where weakness and atrophy affect both the distal legs and shoulder girdle muscles
  • Distal myopathy with anterior tibial onset, where there is weakness of the front part of the leg and foot drop
  • A form of congenital muscular dystrophy that was referred in a few people, and
  • A condition where there are not symptoms but only an elevated level of the muscular enzyme CK in the blood tests.

All dysferlinopathies are caused by pathogenic variations (mutations) in the DYSF gene which result in a deficiency of the protein dysferlin (hence, the name), important for the efficient repair of muscle fibers. Inheritance is autosomal recessive. There is no cure or specific treatment. Management depend on the symptoms and is aimed to improve the quality of life and the life expectation. Research to find an effective treatment is ongoing.

Last updated on 05-01-20

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.

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.

Last updated on 05-01-20

Clinical Research Resources

Dysferlinopathy

The Muscular Dystrophy Campaign is involved in the research of muscular dystrophies, including dysferlinopathy.

Last updated on 04-27-20

Where To Start

Dysferlinopathy

The Muscular Dystrophy Association provides additional information on limb-girdle muscular dystrophy.

Last updated on 04-27-20

Name: Muscular Dystrophy Family Foundation P.O. Box 776
Carmel, IN, 46082, United States
Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana.
Name: Jain Foundation 2310 130th Ave., NE Suite B101
Bellevue, WA, 98005, United States
Phone: 425-882-1492 Email: info@jain-foundation.org Url: https://www.jain-foundation.org/
Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States
Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
Name: Muscular Dystrophy UK 61A Great Suffolk Street
London, SE1 0BU, United Kingdom
Phone: (+44) 0 020 7803 4800 Toll Free: 0800 652 6352 (Helpline) Email: info@musculardystrophyuk.org Url: https://www.musculardystrophyuk.org/

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