Hello
family, I want to take us back to exploring the various types of
muscular dystrophy that exist. Emery-Dreifuss muscular dystrophy is what
we look at today, there might be more medical terms here than most of
us are used to but I will try to keep it simple.
This type affects males only and females can only be carriers without showing any signs.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare childhood-onset degenerative muscle disease seen almost exclusively in males. Emery-Dreifuss muscular dystrophy is characterized by a classic triad (3 ) of symptoms. These include (a) early-onset contractures, (b) very slow progressive muscle weakness and degeneration involving the upper arms and lower legs, and (c ) cardiac (heart) muscle disease.
Emery-Dreifuss muscular dystrophy affects the arms, legs, spine, face, neck, and heart. This disease is characterized by contractures of the elbows and the Achilles tendons at an early age, slowly progressive muscle wasting and weakness, and life potentially life-threatening heart muscle disease. Intelligence is normal, however physical problems may be severe.
Symptoms and disease severity may vary between individuals.
This form can either be inherited or result from a mutation of a person's genes.
Emerin is an important protein normally found on the inner nuclear membrane of skeletal, cardiac, and smooth muscle cells as well as in other tissues. Emerin is missing from the nuclear membranes of males affected with X-linked EDMD. Emerin is not altered in other neuromuscular disorders. ( Dystrophin is the protein which is usually missing in most muscular dystrophies.)
Contractures, or frozen joints, are a hallmark of all forms of EDMD. A contracture is the abnormal shortening of a body part, usually a muscle or a tendon. This shortening creates joint deformity. Contractures usually begin in childhood or adolescence before any muscle weakness is evident. In most cases, contractures are recognized before patients reach 10 years of age. Contractures are treated with stretching, physical therapy, bracing, and surgery.
Muscle weakness and degeneration are slowly progressive, affecting a distinct pattern of muscles. This pattern includes the muscles of the upper arms and the muscles of the lower legs. The biceps (inner upper arm), triceps (outer upper arm), tibialis anterior (inner lower leg), and peroneal (outer lower leg) muscles are commonly involved. Later, the muscles of the shoulder girdle and pelvic girdle, the shoulder and hip area muscles that stabilize and support the attachment of the arms and legs, may also be affected. Additionally, the highly specialized muscle of the heart is at risk for weakness and degeneration.
The muscle and skeletal symptoms of EDMD are treated as they appear. People with EDMD should see a neurologist at least once a year. Stretching and working with a physical therapist is useful in preventing or delaying contractures. Occupational therapy can help patients adapt their activities and environment to their own particular needs. Ankle and foot braces are used to prevent leg deformity. Surgery may be necessary to release contractures. Exercise can help maintain muscle use and overall good health.
This type affects males only and females can only be carriers without showing any signs.
Emery-Dreifuss muscular dystrophy (EDMD) is a rare childhood-onset degenerative muscle disease seen almost exclusively in males. Emery-Dreifuss muscular dystrophy is characterized by a classic triad (3 ) of symptoms. These include (a) early-onset contractures, (b) very slow progressive muscle weakness and degeneration involving the upper arms and lower legs, and (c ) cardiac (heart) muscle disease.
Emery-Dreifuss muscular dystrophy affects the arms, legs, spine, face, neck, and heart. This disease is characterized by contractures of the elbows and the Achilles tendons at an early age, slowly progressive muscle wasting and weakness, and life potentially life-threatening heart muscle disease. Intelligence is normal, however physical problems may be severe.
Symptoms and disease severity may vary between individuals.
This form can either be inherited or result from a mutation of a person's genes.
Emerin is an important protein normally found on the inner nuclear membrane of skeletal, cardiac, and smooth muscle cells as well as in other tissues. Emerin is missing from the nuclear membranes of males affected with X-linked EDMD. Emerin is not altered in other neuromuscular disorders. ( Dystrophin is the protein which is usually missing in most muscular dystrophies.)
Contractures, or frozen joints, are a hallmark of all forms of EDMD. A contracture is the abnormal shortening of a body part, usually a muscle or a tendon. This shortening creates joint deformity. Contractures usually begin in childhood or adolescence before any muscle weakness is evident. In most cases, contractures are recognized before patients reach 10 years of age. Contractures are treated with stretching, physical therapy, bracing, and surgery.
Muscle weakness and degeneration are slowly progressive, affecting a distinct pattern of muscles. This pattern includes the muscles of the upper arms and the muscles of the lower legs. The biceps (inner upper arm), triceps (outer upper arm), tibialis anterior (inner lower leg), and peroneal (outer lower leg) muscles are commonly involved. Later, the muscles of the shoulder girdle and pelvic girdle, the shoulder and hip area muscles that stabilize and support the attachment of the arms and legs, may also be affected. Additionally, the highly specialized muscle of the heart is at risk for weakness and degeneration.
The muscle and skeletal symptoms of EDMD are treated as they appear. People with EDMD should see a neurologist at least once a year. Stretching and working with a physical therapist is useful in preventing or delaying contractures. Occupational therapy can help patients adapt their activities and environment to their own particular needs. Ankle and foot braces are used to prevent leg deformity. Surgery may be necessary to release contractures. Exercise can help maintain muscle use and overall good health.
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