Your QuestionI 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?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- What are dysferlinopathies?
- What diseases are associated with mutations in the dysferlin gene?
- How is dysferlinopathy inherited?
- What are the symptoms of dysferlinopathies?
- What is the prognosis for patients with a dysferlinopathy?
- Can a dysferlinopathy cause spine curvature and weight loss?
- Do dysferlinopathies typically affect the muscles of the face?
- Are patients with a dysferlinopathy able to feed themselves?
- How can I learn about research involving dysferlinopathies?
- How can I find a genetics professional in my area?
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.
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.
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.
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.
The following online resources can help you find a genetics professional in your community:
- The National Society for Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Nguyen K. Phenotypic study in 40 patients with dysferlin gene mutations: High frequency of atypical phenotypes. Arch Neurol. 2007;
- Entrez Gene DYSF. Genetics Home Reference. http://ghr.nlm.nih.gov/locuslink=8291. Accessed 2/18/2008.
- Illa I. et al.. Neurology. 2007; http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=DetailsSearch&Term=17287450%5Buid%5D. Accessed 2/18/2008.
- Aoki M. Dysferlinopathy. GeneReviews. 2004; http://www.ncbi.nlm.nih.gov/books/NBK1303/. Accessed 2/18/2008.
- Bushby KMD, Straub V, Lochmuller H, Eagle M, Guglieri M, Hastings L. Limb girdle muscular dystrophy. Muscular Dystrophy Campaign. http://mdausa.org/disease/limb-girdle-muscular-dystrophy/overview. Accessed 2/18/2008.
- Limb-Girdle Muscular Dystropy. The Muscular Dystrophy Association. http://mda.org/disease/limb-girdle-muscular-dystrophy. Accessed 1/1/1900.
- Ueyama H. et al. Clinical heterogeneity in dysferlinopathy. Internal Medicine. 2002;
- Sahgal V.. Limb-girdle muscular dystrophy. eMedicine. 2006; http://www.emedicine.com/PMR/topic65.htm. Accessed 2/18/2008.
- Takahashi T, Aoki M, Suzuki N et al. Clinical features and a mutation with late onset of limb girdle muscular dystrophy 2B. J Neurol Neurosurg Psychiatry. April 2013; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3595148/. Accessed 10/17/2013.