Screenings for adults with muscular dystrophy
Muscular dystrophy is a group of more than 30 genetic diseases that cause muscle weakness that gets worse over time, and some types also affect other organs. (MedlinePlus) The NHS says some types can affect the heart, lungs or spine, and that some start in childhood while others start later in life. (NHS) Which checks you need depends on the type. This page covers screening and follow-up checks only, not medicines, breathing machines, surgery or gene therapy.
The main guidance
For Duchenne muscular dystrophy, an international working group published updated care considerations in 2018 in three parts, which cover care across the lifespan as people live longer and give heart guidance for female carriers. (DMD care considerations 2018, part 2) For myotonic dystrophy, expert groups published consensus care recommendations for adults with type 1 in 2018 and type 2 in 2019, and recommendations for heart doctors in 2020. (DM1 recommendations 2018)(DM2 recommendations 2019)(Myotonic dystrophy heart 2020) For facioscapulohumeral muscular dystrophy (FSHD), the American Academy of Neurology published an evidence-based guideline in 2015. (AAN FSHD 2015) The NHS says people are normally supported by a team of different specialists. (NHS)
Checks the guidance lists for adults
| Check | Who and when | Source |
|---|---|---|
| Heart assessment: electrocardiogram and heart imaging | Duchenne: at least once a year after age 10 | (DMD care considerations 2018, part 2) |
| Heart assessment for female carriers of Duchenne | Baseline in early adulthood, then every 3 to 5 years | (DMD care considerations 2018, part 2) |
| Breathing tests (lung volume, cough strength, oxygen level) | Duchenne: at least every 6 months once not walking | (DMD care considerations 2018, part 2) |
| Spine X-ray for a known curve | Duchenne: at least once a year after growth ends | (DMD care considerations 2018, part 2) |
| Electrocardiogram | Myotonic dystrophy: at diagnosis, then every year | (Myotonic dystrophy heart 2020) |
| Heart imaging (echocardiogram or heart MRI) | Myotonic dystrophy: at diagnosis, then every 1 to 5 years if normal | (Myotonic dystrophy heart 2020) |
| Breathing tests | Myotonic type 1: about every 6 months; type 2 without symptoms: every 2 years | (DM1 recommendations 2018)(DM2 recommendations 2019) |
| Eye exam with a slit lamp | Myotonic type 1: every year | (DM1 recommendations 2018) |
| HbA1c and fasting blood sugar | Myotonic dystrophy: every year | (DM1 recommendations 2018)(DM2 recommendations 2019) |
| Thyroid and cholesterol blood tests | Myotonic type 1: at baseline, then at least every 3 years | (DM1 recommendations 2018) |
| Swallowing, speech, mobility and falls | Myotonic type 1: every year | (DM1 recommendations 2018) |
| Breathing tests | FSHD: baseline for everyone, then regularly if abnormal or weakness is severe | (AAN FSHD 2015) |
| Dilated eye exam of the retina | FSHD with large gene deletions | (AAN FSHD 2015) |
| Blood pressure | All adults 18 and older | (USPSTF blood pressure, 2021)(DMD care considerations 2018, part 3) |
| Cancer screening | As for the general population | (DM1 recommendations 2018)(DM2 recommendations 2019) |
Duchenne and Becker muscular dystrophy
Heart. The 2018 care considerations say that until age 10 people with Duchenne should have a heart assessment every year, including an electrocardiogram and heart imaging, and that after age 10 people without symptoms should have one at least once a year because the risk of a weak heart muscle rises. Heart MRI is the imaging test of choice once it can be done without anaesthesia, and checks become more frequent once problems are found. They say it is reasonable to start yearly 24-hour heart rhythm monitoring (a Holter monitor) once the heart muscle is weak or scarred. (DMD care considerations 2018, part 2) MedlinePlus says heart muscle problems in Duchenne become evident by age 10, and that heart problems such as a weak heart muscle are among the complications of Becker muscular dystrophy. (MedlinePlus Duchenne)(MedlinePlus Becker) See heart screenings by age.
Female carriers. The care considerations say girls and women who carry a Duchenne gene change are at risk of heart muscle disease, citing a 2016 study in which 47% of carriers had at least one abnormal finding on heart MRI. They recommend a baseline heart assessment in early adulthood with an electrocardiogram and heart imaging, preferably MRI, and say the best interval is not established, but their current guidance is every 3 to 5 years. (DMD care considerations 2018, part 2)
Breathing. The care considerations say lung function can fall without shortness of breath and go unnoticed unless it is tested. For people who no longer walk, they list sitting forced vital capacity, breathing muscle pressures, peak cough flow and oxygen level at least every 6 months, and a carbon dioxide measurement every 6 months where available. They say sleep studies can be done as often as yearly in people with symptoms of breathing problems during sleep. (DMD care considerations 2018, part 2) See spirometry and sleep apnea screening.
Bones and spine. The care considerations recommend a baseline spine X-ray to look for spine fractures in everyone with Duchenne, with follow-up X-rays while risk factors persist. Once a spine curve is found, they recommend X-rays at least once a year after growth has finished. (DMD care considerations 2018, part 2) See bone density test: how often.
Primary care. Part 3 of the care considerations says to do standard hearing and vision screening and screening for mood disorders on the usual schedule, to screen for heart risk factors such as high blood pressure and high cholesterol, and to make sure people with Duchenne get regular dental care. It says care by a team of specialists should continue throughout adult life. (DMD care considerations 2018, part 3)
Myotonic dystrophy
Heart. The 2020 recommendations for heart doctors say a 12-lead electrocardiogram should be done at diagnosis and every year after that in people without symptoms, and heart imaging at diagnosis and every 1 to 5 years if the first scan is normal. They say yearly checks should be done in people with type 1 over age 40, especially with an abnormal electrocardiogram, because heart muscle weakness increases with age, and that echocardiogram and heart MRI are both acceptable. (Myotonic dystrophy heart 2020) The type 1 recommendations say people with heart symptoms, an abnormal yearly or every-other-year electrocardiogram, or who are over 40 with no earlier heart evaluation should be referred to a center experienced in myotonic dystrophy. (DM1 recommendations 2018)
Breathing. The type 1 recommendations say breathing problems are the leading cause of death and call for monitoring at baseline and about every 6 months, with breathing tests including at least forced vital capacity. (DM1 recommendations 2018) The type 2 recommendations say people without breathing symptoms should have a breathing test every 2 years. (DM2 recommendations 2019)
Eyes, swallowing and blood tests. The type 1 recommendations say cataracts occur in most people, and recommend a yearly eye exam with a slit lamp. They recommend a yearly check of swallowing and speech, mobility, balance and falls. They list HbA1c and fasting blood sugar every year, liver tests at baseline and every year, and thyroid and cholesterol tests at baseline and at least every 3 years. (DM1 recommendations 2018) The type 2 recommendations list the same yearly blood sugar and liver tests, and note cataracts among the eye changes. (DM2 recommendations 2019) See eye exams by age, A1C and blood sugar test results, thyroid test results and cholesterol test by age.
Cancer. Both the type 1 and type 2 recommendations say to follow general population cancer screening guidelines, particularly for breast, testicular, cervical and colon cancer, and to check new brain, belly, pelvic and thyroid symptoms for possible cancer. The type 1 recommendations also describe training people to spot small hard lumps under the skin. (DM1 recommendations 2018)(DM2 recommendations 2019) See cancer screenings by age.
Facioscapulohumeral muscular dystrophy (FSHD)
The American Academy of Neurology guideline says breathing problems are rare in FSHD but may only show up on testing. It recommends baseline breathing tests for everyone with FSHD, with regular monitoring for those with abnormal results, severe weakness near the trunk, a curved spine, wheelchair use or other conditions that affect breathing. It says routine heart screening is not necessary in people with FSHD who have no heart symptoms. It says people with large gene deletions should have a dilated eye exam to look for a rare retina problem whose vision loss may be preventable, and recommends hearing tests for people whose FSHD began in childhood. (AAN FSHD 2015) See hearing tests by age.
Routine age-based screening
The USPSTF recommends blood pressure screening for all adults 18 and older (USPSTF blood pressure, 2021) and colorectal cancer screening for adults 45 to 75. (USPSTF colorectal, 2021) The Duchenne care considerations say standard screenings should happen on the usual schedule, (DMD care considerations 2018, part 3) and the myotonic dystrophy recommendations say to follow general population cancer screening guidelines. (DM1 recommendations 2018)(DM2 recommendations 2019) See blood pressure readings: what they mean.
When to contact a provider
MedlinePlus, Becker muscular dystrophy, when to contact a medical professional: (MedlinePlus Becker)
Contact your provider if:
- Symptoms of Becker muscular dystrophy appear
- A person with Becker muscular dystrophy develops new symptoms (particularly fever with cough or breathing difficulties)
- You are planning to start a family and you or other family members have been diagnosed with Becker muscular dystrophy
MedlinePlus, Duchenne muscular dystrophy, when to contact a medical professional: (MedlinePlus Duchenne)
Contact your health care provider if:
- Your child has symptoms of Duchenne muscular dystrophy
- Symptoms get worse, or new symptoms develop, particularly fever with cough or breathing problems
Where they differ:
- Heart checks by type. The Duchenne care considerations call for a heart assessment at least once a year, (DMD care considerations 2018, part 2) the myotonic dystrophy heart recommendations call for a yearly electrocardiogram and imaging every 1 to 5 years if normal, (Myotonic dystrophy heart 2020) while the FSHD guideline says routine heart screening is not necessary without symptoms. (AAN FSHD 2015)
- How often to test breathing. The type 1 myotonic dystrophy recommendations say about every 6 months, (DM1 recommendations 2018) the type 2 recommendations say every 2 years without symptoms, (DM2 recommendations 2019) and the FSHD guideline asks for a baseline test and regular tests only for people at higher risk. (AAN FSHD 2015)
- Female carriers of Duchenne. The care considerations say the best interval for heart checks in carriers has not been established and base their every 3 to 5 years advice on other genetic heart muscle diseases. (DMD care considerations 2018, part 2)
- Strength of the evidence. The myotonic dystrophy recommendations are consensus advice from experts, because evidence-based guidelines do not exist, (DM1 recommendations 2018)(Myotonic dystrophy heart 2020) while the FSHD guideline grades its advice from a systematic review. (AAN FSHD 2015)
Your doctor decides what your result means for you.
Questions people ask
How often should adults with Duchenne muscular dystrophy have heart checks?
The 2018 Duchenne care considerations say that after age 10, people without heart symptoms should have a heart assessment, including an electrocardiogram and heart imaging, at least once a year, and more often once problems appear. (DMD care considerations 2018, part 2)
Do women who carry the Duchenne gene need heart checks?
Yes. The 2018 care considerations say female carriers can develop heart muscle disease and recommend a baseline heart assessment in early adulthood, with an electrocardiogram and heart imaging, then checks every 3 to 5 years. (DMD care considerations 2018, part 2)
What checks are recommended in myotonic dystrophy?
The adult care recommendations list an electrocardiogram every year, a yearly eye exam with a slit lamp in type 1, yearly HbA1c and fasting blood sugar, thyroid and cholesterol tests at least every 3 years, and breathing tests. A 2020 heart paper adds heart imaging at baseline and every 1 to 5 years if normal. (DM1 recommendations 2018) (DM2 recommendations 2019) (Myotonic dystrophy heart 2020)
Do people with facioscapulohumeral muscular dystrophy need heart screening?
The American Academy of Neurology guideline says routine heart screening is not necessary without heart symptoms. It recommends baseline breathing tests for everyone and a dilated eye exam for people with large gene deletions. (AAN FSHD 2015)
Do adults with muscular dystrophy still need routine cancer screening?
Yes. The myotonic dystrophy recommendations say to follow general population cancer screening guidelines, particularly for breast, testicular, cervical and colon cancer, and the Duchenne care considerations list hearing, vision and blood pressure screening on the usual schedule. (DM1 recommendations 2018) (DM2 recommendations 2019) (DMD care considerations 2018, part 3)