Muscular dystrophy refers to a group of disorders that cause muscle weakness and usually run in families.
The age of diagnosis for muscular dystrophy varies depending on the type, but most types are diagnosed during childhood or adolescence. Some types affect mostly boys while other types affect both boys and girls.
Types of muscular dystrophy include:
- Duchenne muscular dystrophy
- The most common type
- Usually affects boys
- Girls may have the gene but generally have no symptoms
- Typically diagnosed in children between 3 and 6 years of age
- Becker muscular dystrophy
- The second-most common type
- Similar to Duchenne but usually more mild
- Symptoms begin during the teen years
- Emery-Dreifuss muscular dystrophy
- Symptoms usually appear by age 10
- Myotonic dystrophy
- Most common adult form of muscular dystrophy, though 50% of all cases are diagnosed in people under age 20
- Limb girdle muscular dystrophy
- Symptoms usually begin between the ages of 8 and 15 years
- Facioscapulohumeral muscular dystrophy (FSHD)
- Symptoms usually appear during the teen years
- Congenital muscular dystrophy
- Usually diagnosed in children between 3 and 6 years of age
Muscular dystrophy is diagnosed with a physical exam and:
- Genetic testing
- Blood tests to check for proteins that indicate muscle damage
- Muscle biopsy
- Electrocardiogram (ECG)
- Electromyography (EMG)
- Echocardiogram (“echo”)
- Magnetic resonance imaging (MRI) of the heart
What Are Symptoms of Muscular Dystrophy?
Symptoms of muscular dystrophy vary depending on the type.
Symptoms of Duchenne and Becker muscular dystrophy include:
- Weakness that starts in the trunk and spreads to the arms and legs
- Legs usually weaken first, making it hard to run, jump, or climb stairs
- Abnormal curves in the spine (scoliosis)
- Heart and lung problems
- Mental problems in some children
Symptoms of Emery-Dreifuss muscular dystrophy include:
- Weakness starts in the arms and later affects the legs
- Sometimes weakness occurs in the face
- Heart problems
- Limited movement at certain joints caused by tightening of the tissues around the joint (contracture)
Symptoms of myotonic dystrophy include:
- Weakness in face muscles, arms, and legs
- Muscle pain
- Problems affecting the heart, eyes, brain, and sexual organs
- Stomach pain, diarrhea, and constipation
- Problems breathing and swallowing
- Daytime sleepiness
- Nerve damage (neuropathy)
Symptoms of limb girdle muscular dystrophy include:
- Weakness in shoulders and hips
- Joint contracture
- Heart problems
Symptoms of facioscapulohumeral muscular dystrophy (FSHD) include:
- Weakness of the face muscles to the point a person is unable to smile, whistle, or shut the eyes tightly
- Weakness may affect the legs, shoulders, and upper arms
- Pain
- Hearing problems
- Heart problems
- Mental problems or seizures in some patients
Symptoms of congenital muscular dystrophy include:
- Weakness in many muscles (sometimes referred to as “floppy baby”)
- Joint contracture
What Is the Treatment for Muscular Dystrophy?
There is no cure for muscular dystrophy. Treatments for muscular dystrophy include:
- Medications
- Glucocorticoids, such as prednisone to reduce inflammation
- Immunosuppressants may help delay damage to dying muscle cells
- Anticonvulsants to help control seizures and some muscle spasms
- Antibiotics to treat respiratory infections
- Eteplirsen for Duchenne muscular dystrophy
- Physical therapy
- Stretching exercises
- Physical activity
- Respiratory therapy
- Breathing exercises
- Assisted ventilation
- Speech therapy
- For patients with weakness of facial and throat muscles
- Learning to slow the pace of speech and use special communication equipment
- Occupational therapy
- Helps with movements and abilities for everyday tasks
- Teaches use of assistive devices such as wheelchairs and utensils
- Assistive devices
- Corrective surgery
- To treat conditions that result from muscular dystrophy
- Pacemaker to treat heart problems
- Cataract surgery
- To treat conditions that result from muscular dystrophy
From
Brain and Nervous System Resources
https://www.nichd.nih.gov/health/topics/musculardys/conditioninfo/treatment
https://rarediseases.info.nih.gov/diseases/5900/becker-muscular-dystrophy
https://pubmed.ncbi.nlm.nih.gov/32107739/
https://www.rarediseasereview.org/publications/2019/11/1/emery-dreifuss-muscular-dystrophy-a-triad-of-challenges
https://www.mda.org/
https://childrensnational.org/visit/conditions-and-treatments/movement-disorders/muscular-dystrophies
https://cookchildrens.org/neurology/conditions/Pages/Muscular-Dystrophy.aspx