Locations:
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.
The main symptoms of myotonic dystrophy include the following, which get progressively worse over time:
Myotonia is the inability to relax muscles at will VSports. 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 VSports app下载.
Symptoms of classic myotonic dystrophy type 1 begin in adulthood V体育官网. Myotonia is the main initial symptom. It’s often more obvious after rest and improves with muscle activity.
Other symptoms include:
Signs of congenital myotonic dystrophy before birth include:
Symptoms of congenital DM in children and adults include:
Symptoms of mild myotonic dystrophy type 1 typically begin between the ages of 20 and 70 years. They include:
Symptoms of childhood myotonic dystrophy type 1 usually begin around age 10. They include:
Symptoms of myotonic dystrophy type 2 (DM2) typically begin in adulthood and can vary.
Symptoms can include:
Advertisement
Pain is one of the primary complaints in DM2. People with DM2 describe it as abdominal, musculoskeletal and exercise-related pain.
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.
Both types of myotonic dystrophy are inherited in an autosomal dominant pattern. When a trait is autosomal dominant, only one parent needs to have an altered gene to pass it on. Half of the children of a biological parent with an autosomal trait will get that trait.
As myotonic dystrophy type 1 is passed from one generation to the next, the condition generally begins earlier and earlier in life, and signs and symptoms become more severe. This phenomenon is called anticipation.
Advertisement
If you’re experiencing symptoms of myotonic dystrophy (DM), a healthcare provider will perform a physical exam and ask questions about your:
Certain medical tests can help confirm a myotonic dystrophy diagnosis.
Genetic testing (VSports app下载) 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:
Advertisement
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:
There’s no cure for myotonic dystrophy (DM). Treatment instead focuses on:
DM can affect many different parts of your body. Depending on your symptoms, treatment may include:
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).
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.
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.
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.
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.
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.
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.
If you have a neurological condition, you want expert advice. At Cleveland Clinic, we’ll work to create a treatment plan that’s right for you.
Last reviewed on 12/12/2022.
Learn more about the Health Library and our editorial process.
