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How is myotonic dystrophy (DM2) treated?
How is myotonic dystrophy treated?
Can gene therapy be used for myotonic dystrophy type 1 and 2?
Dec 1, 2020 · Although treatment of myotonic dystrophy type 1 and myotonic dystrophy type 2 is currently limited to supportive therapies, new therapeutic approaches based on pathogenic mechanisms may become feasible in near future.
- Table II
Table II - Myotonic dystrophy type 2: the 2020 update - PMC
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Figure 1 - Myotonic dystrophy type 2: the 2020 update - PMC
- Tab. I
Tab. I - Myotonic dystrophy type 2: the 2020 update - PMC
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Fig. 3 - Myotonic dystrophy type 2: the 2020 update - PMC
- Deregulated MicroRNAs in Myotonic Dystrophy Type 2
Introduction. Myotonic Dystrophy (DM) is an autosomal...
- Reduction of The Rate of Protein Translation in Patients With Myotonic Dystrophy 2
Introduction. Myotonic dystrophy 2 (DM2) is a multisystemic,...
- Premutation Allele Pool in Myotonic Dystrophy Type 2
Myotonic dystrophy type 1 (DM1, Mendelian Inheritance in Man...
- Table II
Mar 15, 2024 · Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, iridescent cataracts, and other abnormalities. The management and prognosis of patients with DM will be reviewed here.
Jun 26, 2023 · There are two major forms recognized based on clinical and molecular presentation: Myotonic dystrophy type I (DM1), known as Steinert disease, and myotonic dystrophy type II (DM2), or proximal myotonic myopathy which is a milder variety of DMI. These are progressive, multisystem genetic disorders.
- Darrell G. Vydra, Appaji Rayi
- 2023/06/26
Mar 19, 2024 · Although there is no cure for myotonic dystrophy, a person may receive treatment for complications such as cataracts and diabetes. Read on to learn more about myotonic dystrophy and its...
- Overview
- Symptoms and Causes
- Diagnosis and Tests
- Management and Treatment
- Prevention
- Outlook / Prognosis
- Living With
Myotonic dystrophy (DM) is an inherited multisystem condition that mainly causes progressive muscle loss, weakness and myotonia. It can also affect other parts of your body, including your heart, lungs and eyes. There’s no cure for DM, but certain treatments and therapies can help manage symptoms and improve quality of life.
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OverviewSymptoms and CausesDiagnosis and TestsManagement and TreatmentPreventionOutlook / PrognosisLiving With
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What are the symptoms of myotonic dystrophy?
The main symptoms of myotonic dystrophy include the following, which get progressively worse over time: Muscle atrophy (wasting). Muscle weakness. Myotonia. Myotonia is the inability to relax muscles at will. For example, it may be difficult for someone with DM to let go of a door handle after grasping it. However, DM can affect many different parts of your body and cause a variety of other symptoms. The severity and rate at which these symptoms develop depend on the type of DM.
What causes myotonic dystrophy?
Myotonic dystrophy (DM) is inherited (passed from parent to biological child). Mutations (changes) in the DMPK gene cause myotonic dystrophy type 1, while mutations in the CNBP gene cause type 2. Similar changes in the structure of the DMPK and CNBP genes cause myotonic dystrophy type 1 and type 2. In each case, a segment of DNA is abnormally repeated many times, forming an unstable region in the gene. The more times the DNA is abnormally repeated, the more severe the symptoms of DM are. Scientific evidence suggests that excess messenger RNA generated from the abnormal DNA repeats is toxic and interferes with the production of many proteins in cells, which, in turn, causes signs and symptoms in various organs in myotonic dystrophy.
How is myotonic dystrophy diagnosed?
If you’re experiencing symptoms of myotonic dystrophy (DM), a healthcare provider will perform a physical exam and ask questions about your: Personal medical history. Family medical history, especially a history of DM. Symptoms. Certain medical tests can help confirm a myotonic dystrophy diagnosis.
What tests will be done to diagnose myotonic dystrophy?
Genetic testing can confirm a diagnosis of myotonic dystrophy (DM). The testing looks for mutations in the DMPK gene (in DM1) or the CNBP gene (in DM2). If your healthcare provider is unsure if you may have DM or another condition, they may order one or more of the following tests before recommending genetic testing: Creatine kinase blood test: Creatine kinase is an enzyme that mainly exists in your heart and skeletal muscle. The cells in your skeletal muscles or heart muscles release creatine kinase into your blood when they’re damaged. In people with mild myotonic dystrophy, it may be mildly elevated but is typically normal. Electromyogram (EMG): This test involves checking electrical activity of muscle fibers using a fine needle electrode that’s inserted into your muscles. Typically, people with myotonic dystrophy have excessive waxing and waning electrical activity in their muscles at rest. Muscle biopsy: For a muscle biopsy, a provider will remove a small sample of tissue and cells from one of your muscles. They’ll then analyze it under a microscope to look for signs of DM. If these tests confirm a diagnosis of DM, your provider will likely recommend more tests to check the functioning of certain organs DM can affect. These tests include: Electrocardiogram to check your heart function. Pulmonary (lung) function testing to check for neuromuscular respiratory failure. Sleep study to check for obstructive sleep apnea and hypersomnia (daytime sleepiness).
How is myotonic dystrophy treated?
There’s no cure for myotonic dystrophy (DM). Treatment instead focuses on: Managing symptoms. Maximizing quality of life and independence. DM can affect many different parts of your body. Depending on your symptoms, treatment may include: Medications that reduce sustained myotonia, including sodium channel blockers such as mexiletine, tricyclic antidepressants, benzodiazepines or calcium antagonists. A CPAP machine for sleep apnea. Neurostimulants such as methylphenidate for excessive daytime sleepiness. Cataract surgery for cataracts that impair your vision. Treatment for diabetes, which may involve medications in pill form and/or insulin. People with DM are at an increased risk of diabetes from insulin resistance. Synthetic testosterone for the treatment of low testosterone (male hypogonadism). Men and people assigned male at birth with DM1 commonly have low testosterone and erectile dysfunction. Physical and occupational therapy are a significant part of maximizing independence for people with DM. It can help strengthen your muscles and help you learn new ways of performing daily tasks. Assistive devices, such as braces, canes or a wheelchair can also help with independence. Speech-language pathology (SLP) can help with difficulty swallowing (dysphagia) and slurred speech (dysarthria). Care at Cleveland Clinic Neurology Care for Adults Neurology Care for Children Make an Appointment
Can myotonic dystrophy be prevented?
As myotonic dystrophy (DM) is an inherited condition, there’s nothing you can do to prevent it. If you’re concerned about the risk of passing on DM or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling.
What is the prognosis of myotonic dystrophy?
The prognosis (outlook) of myotonic dystrophy (DM) depends on the type and the age it begins. An earlier age of symptom onset is generally associated with poorer outcomes and reduced survival rates. Up to 50% of people with myotonic dystrophy type 1 need a wheelchair for mobility before death. People with myotonic dystrophy type 2 have milder symptoms and typically don’t need assistive devices for mobility.
What is the life expectancy of someone with myotonic dystrophy?
The average life expectancy for myotonic dystrophy depends on the type. The neonatal mortality rate (death that occurs within 28 days after birth) is around 18% for infants with congenital DM1. About 25% of people with congenital DM1 die before 18 months of age and 50% die before their mid-30s. People with mild DM1 usually have normal lifespans. Lifespan is reduced compared to average in classic DM1.
Is myotonic dystrophy fatal?
Myotonic dystrophy (DM) can be fatal, though the age at which DM may cause death depends on the type. The leading cause of death in DM is neuromuscular-associated respiratory failure, followed by cardiovascular complications.
When should I see my healthcare provider about myotonic dystrophy?
If you’re experiencing symptoms of DM, such as muscle weakness or myotonia, talk to a healthcare provider. If you have DM, you’ll need to see your healthcare team regularly to make sure your current treatment plan is working for you. A note from Cleveland Clinic It can be overwhelming to learn you or your child have a new diagnosis. It’s important to remember that no two people with myotonic dystrophy (DM) are affected in the same way. The best way you can prepare is to talk to healthcare providers who specialize in researching and treating DM. They’ll offer treatment options and answer any questions you have. Medically Reviewed Last reviewed by a Cleveland Clinic medical professional on 12/12/2022. Learn more about our editorial process.
Sep 27, 2021 · The aim of this article is to provide an overview on the current and upcoming therapeutic options for patients with myotonic dystrophy type 2 (DM2). At the moment, no disease-modifying therapies are available for DM2; next-generation therapies may however be available in the near future.
Dec 10, 2018 · Myotonic dystrophy type 2 (DM2) is a rare, progressive multisystem disease particularly affecting the skeletal muscle. A causal therapy is not yet available; however, prompt, appropriate symptomatic treatments are essential to limit disease-related complications.
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related to: myotonic dystrophy type ii treatmentWhat could addressing muscle weakness mean for people with spinal muscular atrophy (SMA)? Learn why preserving and strengthening muscle matters to people living with SMA.
Learn More About Duchenne Muscular Dystrophy (DMD) Treatment Option. View Safety & Prescribing Information For This FDA-Approved Treatment Option.
This FDA-approved treatment option is for patients 2 years of age or older. Visit our website to enroll now & learn more about this treatment
