Muscular Dystrophy (MD)

] Patients with MD experience a range of neurological and muscle function symptoms that progress over time. Diagnosis begins with a discussion of your family and personal medical history, including symptoms such as:

• Breathing difficulties
• Enlarged calf muscles
• Frequent falling
• Difficulty rising from a sitting or lying down position
• Heart problems that are otherwise unexplained
• Inability to relax muscle contractions
• Learning deficits
• Muscle pain and stiffness 
• Trouble running and jumping
• Waddling walk or walking on the tiptoes

Next, we will recommend specific tests and exams to rule out other neurological or underlying conditions. Some of these next steps may include:

• Biopsy to search for cell changes in muscle tissue
• Enzyme and protein blood tests for elevated levels of creatine kinase, which can indicate muscle damage
• EMG imaging to measure the electrical activity of muscles and nerves
• Genetic testing to determine whether you have gene mutations associated with MD

There are more than 30 types of muscular dystrophy. Inherited genetic mutations cause most forms of MD. Rarely will a person develop MD spontaneously, with no known cause. Some forms of MD are diagnosed at birth; most develop during childhood or adulthood.

Your personal treatment plan will be designed around your symptoms, long-term health goals and the type of MD you have. More common forms of MD include: 

• Adult-onset MD – Appears between ages 20 and 70, but usually occurs after age 40.
• Becker MD – Symptoms are typically milder than Duchenne, progress more slowly and begin in the teens or early 20s. 
• Duchenne MD – Occurs in about half of patients and primarily affects boys beginning at 2-3 years old. About one-third of boys with this form don’t have a family history of the disease. Girls may be carriers of genetic mutation.
• Congenital MD – Appears between birth and age 2, with a wide expanse of progression and severity.
• Facioscapulohumeral MD – Starts in the face and shoulders and can appear anytime from childhood into the early 40s. 
• Limb-girdle MD – Affects the hip and shoulder muscles first, making it difficult to lift the front part of the foot. This type usually starts in childhood or adolescence.
• Myotonic MD – Also known as Steinert’s disease and typically affects the facial and neck muscles first. This form can damage the heart and often occurs in adult-onset MD.  

A range of effective medications can help manage symptoms and slow the progression of all forms of MD. For example, steroid and immunosuppressive medications may reduce inflammation, improving symptoms. Other treatment options may include:

• Implantation of a pacemaker in the heart 
• Mobility aids such as walkers or wheelchairs
• Physical and occupational therapy to strengthen and stretch muscles 
• Psychological care and counseling 
• Respiratory therapy
• Speech therapy to improve swallowing
• Surgery to release tensely contracted muscles and correct spine curvatures that restrict breathing

Though there is not yet a cure for muscular dystrophy, Houston Methodist MD experts provide the most advanced treatment options available — including clinical trial therapies    that are not widely available at other institutions.