Muscular dystrophies are a group of inherited muscle disorders in which one or more genes Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or the code for functional ribonucleic... read more 
needed for normal muscle structure and function are defective, leading to muscle weakness Weakness Weakness refers to loss of muscle strength. That is, people cannot move a muscle normally despite trying as hard as they can. However, the term is often misused. Many people with normal muscle... read more 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 Dominant disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more ). Sometimes a defective gene must be inherited form both parents (autosomal recessive Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more ). Sometimes a defective gene can come from only the mother (X-linked recessive Recessive x-linked disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body or code for functional RNA molecules.... read more ). 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 (cardiomyopathy Overview of Cardiomyopathy Cardiomyopathy refers to progressive impairment of the structure and function of the muscular walls of the heart chambers. There are three main types of cardiomyopathy: Dilated cardiomyopathy... read more 
). An affected heart commonly causes 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 Diagnosis 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 of varying... read more to measure levels of the enzyme creatine kinase in the blood, electrical studies of muscle function (electromyography Electromyography and Nerve Conduction Studies Diagnostic procedures may be needed to confirm a diagnosis suggested by the medical history and neurologic examination. Imaging tests commonly used to diagnose nervous system (neurologic) disorders... read more 
), and genetic testing Genetic Screening Before Pregnancy Genetic screening is used to determine whether a couple is at increased risk of having a baby with a hereditary genetic disorder. Hereditary genetic disorders are disorders of chromosomes or... read more . 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 Physical Therapy (PT) Physical therapy, a component of rehabilitation, involves exercising and manipulating the body with an emphasis on the back, upper arms, and legs. It can improve joint and muscle function, helping... read more can help prevent contractures.
Heart pacemakers Artificial Pacemakers There are many causes of abnormal heart rhythms (arrhythmias). Some arrhythmias are harmless and do not need treatment. Sometimes arrhythmias stop on their own or with changes in lifestyle,... read more 
may help prolong life if heart rhythms are abnormal.
More Information
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
