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.
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. An affected heart commonly causes sudden death.
Doctors suspect the diagnosis of Emery-Dreifuss dystrophy based on the boy's symptoms and family history.
The following is an English-language resource that 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