The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy.
Duchenne muscular dystrophy
About half of people with muscular dystrophy have this variety. Although girls can be carriers and mildly affected, the disease typically affects boys.
About one-third of boys with Duchenne muscular dystrophy don't have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation).
Signs and symptoms typically appear between the ages of 2 and 3, and may include:
- Frequent falls
- Difficulty getting up from a lying or sitting position
- Trouble running and jumping
- Waddling gait
- Walking on the toes
- Large calf muscles
- Muscle pain and stiffness
- Learning disabilities
Becker muscular dystrophy
Signs and symptoms are similar to those of Duchenne muscular dystrophy, but typically are milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later.
Other types of muscular dystrophy
Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms first begin. Examples include:
- Myotonic. Also known as Steinert's disease, this form is characterized by an inability to relax muscles at will following contractions. Myotonic muscular dystrophy is the most common form of adult-onset muscular dystrophy. Facial and neck muscles are usually the first to be affected.
- Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face and shoulders. The shoulder blades might stick out like wings when a person with FSHD raises his or her arms. Onset usually occurs in the teenage years but may begin in childhood or as late as age 40.
- Congenital. This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.
- Limb-girdle. Hip and shoulder muscles are usually the first affected. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and so may trip frequently. Onset usually begins in childhood or the teenage years.
When to see a doctor
Seek medical advice if you notice signs of muscle weakness — such as increased clumsiness and falling — in yourself or your child.
Nov. 27, 2014
- Darras BT. Clinical features and diagnosis of Duchenne and Beck muscular dystrophy. http://www.uptodate.com/home. Accessed Oct. 24, 2014.
- NINDS muscular dystrophy information page. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/md/md.htm. Accessed Oct. 23, 2014.
- Mercuri E, et al. Muscular dystrophies. The Lancet. 2013;381:845.
- Benditt JO, et al. Pulmonary issues in patients with chronic neuromuscular disease. American Journal of Respiratory and Critical Care Medicine. 2013;187:1046.
- Darras BT, et al. Myotonic dystrophy: Etiology, clinical features, and diagnosis. http://www.uptodate.com/home. Accessed Oct. 24, 2014.
- Darras BT. Treatment of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home. Accessed Oct. 23, 2014.
- AskMayoExpert. What physical and occupational therapy interventions are available for muscular dystrophy (MD)? Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2013.
- AskMayoExpert. Can braces or adaptive equipment help with muscular dystrophy? Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2013.
- Darras BT. Patient information: Overview of muscular dystrophies (beyond the basics). http://www.uptodate.com/home. Accessed Oct. 23, 2014.
- Selcen D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 3, 2014.
- Abresch RT, et al. Exercise in neuromuscular diseases. Physical Medicine & Rehabilitation Clinics of North America. 2012;23:653.