The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Cataract | Very frequent (present in 80%-99% of cases) |
| Myotonia | Very frequent (present in 80%-99% of cases) |
| Autosomal dominant inheritance | - |
| Diabetes mellitus | - |
| Elevated follicle stimulating hormone | - |
| Elevated serum creatine phosphokinase | - |
| Frontal balding | - |
| Hypogonadism | - |
| IgG deficiency | - |
| IgM deficiency | - |
| Insulin insensitivity | - |
| Iridescent posterior subcapsular cataract | - |
| Myalgia | - |
| Neck flexor weakness | - |
| Oligospermia | - |
| Palpitations | - |
| Proximal muscle weakness | - |
| Tachycardia | - |
| Type 2 muscle fiber atrophy | - |
Myotonia is usually mild and rarely requires treatment. Routine exercise appears to help with pain control, as well as with muscle strength and endurance. The effectiveness of most medications for pain management varies. Mexilitene, which is very effective for some forms of myotonia, has helped control muscle pain in some people with this condition. Other medications that have been used with some success include gabapentin, nonsteroidal anti-inflammatory drugs (NSAIDS), low-dose thyroid replacement, low-dose steroids, and tricyclic antidepressants. Cholesterol-lowering medications should be avoided when they are associated with increased weakness.[1]
There are steps a person can take to prevent some secondary complications. Anesthetic risk may be increased, so careful assessment of heart and respiratory function before and after surgery are recommended. Affected people should also have a yearly electrocardiogram or cardiac MRI to detect possible conduction defects or cardiomyopathy.[1]
You can see more detailed information about the management of myotonic dystrophy type 2 on the GeneReviews Web site.
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.
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.
Gordon Research Conferences CAG Triplet Repeat Disorders and the associated Graduate Research Seminar
Saturday, June 22, 2013 -
Friday, June 28, 2013
Location: Waterville Valley Resort,
Waterville Valley,
NH
Description: The 2013 Gordon Research Conference on CAG Triplet Repeat Disorders will bring together top scientists from around the world to discuss high-impact, interdisciplinary research on CAG Triplet Repeat Disorders. The objective of the conference is to promote scientific discussion and facilitate interdisciplinary exchange by bringing leading researchers in the field together with a broad range of experts representing; clinicians, diagnosticians, neurobiologists, pathologists, geneticists and molecular biologists.
Contact: Miles Fabian(301) 594-3827fabianm@mail.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
8th International Myotonic Dystrophy Consortium Meeting
Wednesday, November 30, 2011 -
Saturday, December 3, 2011
Location: Sheraton Sand Key,
Clearwater ,
FL
Description: The 8th International Myotonic Dystrophy Consortium Meeting (IDMC-8) will be held at the Sheraton Sand Key Resort in Clearwater Beach Florida November 30 – December 3 2011. This year, the meeting will be preceded by the Outcome Measures for Myotonic Dystrophy on Wednesday November 30 (place website link here) and followed by the EMPOWER2011 Myotonic Dystrophy Family Conference . Participation to the Outcome Measures for Myotonic Dystrophy meeting is by invitation-only while EMPOWER2011 is open to all families living with myotonic dystrophy.
Contact: Dr. John D. Porter(301) 496-1917porterjo@ninds.nih.gov
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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2009 Triplet Repeat Disorders Gordon Conference
Sunday, May 31, 2009 -
Friday, June 5, 2009
Location:
Waterville Valley,
NH
Description: The top two priorities of this conference were training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference was on areas of rapid advancement and latest developments. Speakers were selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders were instructed to focus on issues that cut across each presentation in a session.
Contact: Dr. Margaret Sutherland, NINDS 301-496-5680
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke
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The following diseases are related to Myotonic dystrophy type 2. If you have a question about any of these diseases, you can contact GARD.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I am 36 and I have been fighting this since my twenties. It started in my legs and now my neck. I want to know is there something to slow this down, what's next, and is my life span shortened? See answer
I'm 53 years old and have a very unusual sickness. Since I was 16 years old, I have been sick for several periods of the year. I was diagnosed with Kleine Levin syndrome four years ago, and the symptoms are very much like what other patients have described. Is there anyone else that has been sick with Kleine Levin syndrome for so long? I also received the diagnosis of myotonic dystrophy type 2 five years ago. Can Kleine Levin syndrome and myotonic dystrophy type 2 have anything to do with each other? See answer
My husband has been diagnosed with type 2 myotonic dystrophy. We have two daughters who will be tested. Where can we learn more about this condition? See answer
