Emery-Dreifuss dystrophy is a muscular dystrophy that is inherited in various ways. In addition to weakness and muscle wasting, people often have heart problems that may cause sudden death.
Muscular dystrophies are a group of inherited muscle disorders in which one or more genes needed for normal muscle structure and function are defective, leading to muscle weakness and muscle wasting (dystrophy) of varying severity.
Emery-Dreifuss dystrophy is inherited in various ways because different genes may be involved. Sometimes only one defective gene is needed, which can be inherited from either parent (autosomal dominant). Sometimes a defective gene must be inherited form both parents (autosomal recessive). Sometimes a defective gene can come from only the mother (X-linked recessive). The autosomal recessive form is the rarest. Only males are affected by the X-linked recessive form, but females may be carriers of the gene that causes it. Carriers are people who have an abnormal gene for a disorder but who do not have any symptoms or visible evidence of the disorder.
Symptoms of Emery-Dreifuss Dystrophy
Muscles become weak and waste away (atrophy) beginning any time before age 20 years. The most affected muscles are those of the upper arms, lower legs, and heart. The muscles of the arms and legs tighten in permanent, flexed positions called contractures.
The heart muscle can also be affected by weakness (cardiomyopathy) and by disorders that cause abnormal heart rhythms including heart block, a slow heart rate (bradycardia), or a rapid heart rate (tachycardia). An affected heart may cause sudden death.
Diagnosis of Emery-Dreifuss Dystrophy
Genetic testing
Sometimes muscle biopsy
Doctors suspect the diagnosis of Emery-Dreifuss dystrophy based on the boy's symptoms and family history.
To confirm the diagnosis, doctors usually do blood tests to measure levels of the enzyme creatine kinase in the blood, electrical studies of muscle function (electromyography), and genetic testing. If genetic testing does not confirm the diagnosis, then muscle biopsy (examination of a sample of the weak muscle tissue under a microscope) can be done.
Treatment of Emery-Dreifuss Dystrophy
Therapy to prevent contractures
Physical therapy can help prevent contractures.
Heart pacemakers may help prolong life if heart rhythms are abnormal.
More Information
The following English-language resource may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Muscular Dystrophy Association: Information on research, treatment, technology, and support for people living with Emery-Dreifuss muscular dystrophy
