Congenital muscular dystrophy
- Article
- 2021-02-28
MD refers to a group of more than 30 genetic diseases characterized by muscle weakness and loss, leading to decreased motor function and coordination. MD progresses or gets worse over time. Some forms of MD appear in childhood or childhood, while others may not appear until adulthood or middle age.
NICHD is working with other federal agencies and NIH institutes to understand this neuromuscular disease. In partnership with other NIH institutes and centers, NICHD supports the Wellstone Muscular Dystrophy Specialized Research Centers, which bring together expertise, infrastructure and resources to address important questions and support research collaborations in MD.
Symptoms
There are over 30 types of MD, each with characteristics that are unique in one way or another. Here is a brief description of some common (sometimes "primary") types of MD and some of their symptoms.
Duchenne MD (DMD)
- DMD is the most common and serious form of MD in children, accounting for about half of MD cases.
- DMD mainly occurs in boys, usually between the ages of 3 and 5, and progresses quickly. Most people with DMD can no longer walk by age 12 and may eventually need a ventilator to breathe.
- Muscle weakness usually starts in the thighs and pelvis.
- In the past, people with DMD usually died in their late teens or early 20s from heart problems, breathing complications, or infection. Improvements in health care mean that many people with DMD are now living in their 30s or even 40s.
Becker MD
- Becker MD is caused by the dystrophin gene, such as DMD, but usually has milder symptoms than DMD.
- It mainly occurs in boys and men, usually between the ages of 11 and 25, and can progress slowly or quickly.
- Some people with Becker MD may never need to use a wheelchair, while others lose the ability to walk during their teenage years, in their mid-30s or later.
Myotonic MD
- This is the most common form of MD in adults and usually affects people between the ages of 20 and 30, although it can occur in children as well. 2
- There are two types of myotonic MD type 1 (more common) and type 2 3
- The main symptom with either type is that muscles cannot relax after a sudden contraction.
Fasioscapulohumeral MD (FSHD)
- The name of this type of MD refers to the affected parts of the body: the face ( facio ), shoulders ( scapulo ) and upper arms ( humerus ).
- FSHD often appears first in the eyes - as having difficulty opening and closing the eyelids - and the mouth - as not being able to smile or pull the lips. The symptoms can range from mild to severely disabling.
- FSHD mainly occurs during the teenage years, but cannot occur until the age of 40.
- Most people with FSHD have a normal lifespan.
- It can be inherited in an autosomal dominant way.
Limb belt MD
- This type of MD affects men and women, usually in adolescence or young adulthood, although it can start in childhood. 4
- Limb-belt MD can progress quickly or slowly, but most patients become severely disabled (with muscle damage and the inability to walk) within 20 years of developing the disease.
- It is usually inherited in an autosomal recessive way.
Therapy
Currently available treatments for MD can help manage and reduce the severity of symptoms. Current research on treatments, including some gene-based approaches, also shows promise for slowing or even reversing some of the symptoms of certain types of MD.
The information provided here is not all inclusive of the treatments or medications that may be used or prescribed for people with MD. If you have any questions about treatments for MD, please discuss them with your healthcare provider.
NIH research on MD is led by the National Institute of Neurological Disorders and Stroke (NINDS). Thed = "anch_716" href = "https://www.ninds.nih.gov/Disorders/All-Disorders/Muscular-Dystrophy-Information-Page" target = "_ blank" rel = "noopener"> NINDS website about MD provides more comprehensive information about treatments.
MD treatments can include the following. 1 , 2 , 5
Physiotherapy
Starting physical therapy early can help keep muscles flexible and strong. A combination of physical activity and stretching may be recommended for people with MD.
Respiratory therapy
Because the body relies on muscles such as the diaphragm to breathe, weakened muscles from MD can affect breathing. Many people with MD don't realize they've lost their breathing strength until they have a hard time coughing or an infection leads to pneumonia. Shortly after MD is diagnosed, specialists can suggest treatments to prevent or delay breathing problems. Ultimately, some people with MD need a ventilator to help breathe.
Speech therapy
MD patients who experience weakness in the facial and throat muscles can benefit from speech therapy to teach them how to maximize their muscle strength. Some methods include slowing down the pace of their speech, pausing more between breaths, 3 and using specialized communication equipment.
Occupational therapy
As physical skills change, occupational therapy can help patients with MD relearn lost motor skills and learn ways to overcome weakened muscles. Occupational therapy also teaches people with MD how to use aids such as wheelchairs, eating utensils, and personal items, including hair and toothbrushes.
Surgery
At different times and depending on the form of MD, many people with MD need surgery to treat some of the conditions associated with MD. For example, people with myotonic MD may need a pacemaker to treat heart problems or surgery to remove cataracts, a cloudiness of the lens of the eye that prevents light from entering the eye. Some people with MD may need surgery for scoliosis, or curvature of the spine.
Drug therapy
Certain medications can slow muscle damage or reduce the symptoms of MD. These can include the following:
- Glucocorticoids 4 , 5 such as prednisone or deflazacort, which in 2017 by the US Food and Drug Administration (FDA) approved for the treatment of DMD. Studies show that daily prednisone treatment can increase muscle strength and respiratory function and the progression of weakness in MD.
- A new glucocorticoid treatment called vamorolone is being studied in boys with DMD. Initial results showed that the treatment had similar benefits to prednisone, but without the side effects. 6
- NICHD-funded researchers found that vamorolone also helped treat symptoms of limb girdle MD in animal models.
- Anticonvulsants. These drugs are most commonly used for epilepsy and can help control seizures and some muscle spasms in people with MD.
- Immunosuppressants. Immunosuppressants, which are often given to treat autoimmune conditions such as lupus and eczema, can help slow down damage to dying muscle cells in MD.
- Beta blockers, angiotensin converting enzyme (ACE) inhibitors, and other medications for the treatment of heart problems, such as high blood pressure and heart failure, that are associated with certain types of MD.
Gene-Based Therapy
Restoring the ability of a gene
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