Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e. g., ankle-foot orthosis ), speech therapy, and respiratory therapy may be helpful . Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone. Orthoses (orthopedic appliances used for support) and corrective orthopedic surgery may be needed to improve the quality of life in some cases. The cardiac problems that occur with EDMD and myotonic muscular dystrophy may require a pacemaker. The myotonia (delayed relaxation of a muscle after a strong contraction) occurring in myotonic muscular dystrophy may be treated with medications such as quinine.
Muscular dystrophy was first described in the 1830s by Charles Bell. The word "dystrophy" comes from the Greek dys, meaning "no, un-" and troph- meaning "nourish".
The signs and symptoms consistent with muscular dystrophy are: 1 Progressive muscular wasting 2 Poor balance 3 Scoliosis (curvature of the spine and the back) 4 Progressive inability to walk 5 Waddling gait 6 Calf deformation 7 Limited range of movement 8 Respiratory difficulty 9 Cardiomyopathy 10 Muscle spasms 11 Gowers' sign
Pharmacotherapy, physical therapy, braces, corrective surgery, assisted ventilation. Prognosis. Depends on the particular disorder. Muscular dystrophies ( MD) are a genetically and clinically heterogeneous group of rare muscle disorders that cause progressive weakness and breakdown of skeletal muscles over time.
In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle (left). Muscular dystrophies ( MD) are a genetically and clinically heterogeneous group of rare muscle disorders that cause progressive weakness and breakdown of skeletal muscles over time.
In 1966, United States-based organization the Muscular Dystrophy Association (MDA) and American comedian, humanitarian, filmmaker and actor Jerry Lewis began its annual Jerry Lewis MDA Telethon, which has probably done more to raise awareness of muscular dystrophy than any other event or initiative.
Some types are also associated with problems in other organs. Over thirty different disorders are classified as muscular dystrophies.
Limb-girdle. Hip and shoulder muscles are usually affected first. People with this type of muscular dystrophy might have difficulty lifting the front part of the foot and so might trip frequently. Onset usually begins in childhood or the teenage years.
Some types of muscular dystrophy are defined by a specific feature or by where in the body symptoms begin. Examples include: Myotonic. This is characterized by an inability to relax muscles following contractions. Facial and neck muscles are usually the first to be affected.
Heart problems. Muscular dystrophy can reduce the efficiency of the heart muscle.
Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation particular to that type of the disease. Most of these mutations are inherited.
Although girls can be carriers and mildly affected, it's much more common in boys. Signs and symptoms, which typically appear in early childhood, might include: Frequent falls. Difficulty rising from a lying or sitting position.
Becker muscular dystrophy. Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but might not occur until the mid-20s or later.
Facioscapulohumeral (FSHD). Muscle weakness typically begins in the face, hip and shoulders. The shoulder blades might stick out like wings when arms are raised.
Muscular dystrophy can occur at any age, but most diagnoses occur in childhood. Young boys are more likely to have this disease than girls.
There are more than 30 different types of muscular dystrophy, which vary in symptoms and severity. There are nine different categories used for diagnosis.
Facioscapulohumeral (FSHD) Facioscapulohumeral muscular dystrophy (FSHD) is also known as Landouzy-Dejerine disease. This type of muscular dystrophy affects the muscles in your face, shoulders, and upper arms. FSHD may cause: difficulty chewing or swallowing. slanted shoulders. a crooked appearance of the mouth.
Myotonic dystrophy is also called Steinert’s disease or dystrophia myotonica. This form of muscular dystrophy causes myotonia, which is an inability to relax your muscles after they contract. Myotonia is exclusive to this type of muscular dystrophy.
difficulty standing up. poor posture. bone thinning. scoliosis, which is an abnormal curvature of your spine. mild intellectual impairment. breathing difficulties. swallowing problems. lung and heart weakness. People with Duchenne muscular dystrophy typically require a wheelchair before their teenage years.
Limb-girdle muscular dystrophy. Limb-girdle muscular dystrophy causes weakening of the muscles and a loss of muscle bulk. This type of muscular dystrophy usually begins in your shoulders and hips, but it may also occur in your legs and neck.
Limb-girdle muscular dystrophy affects both males and females. Most people with this form of muscular dystrophy are disabled by age 20. However, many have a normal life expectancy.
PubMed is a searchable database of medical literature and lists journal articles that discuss Emery-Dreifuss muscular dystrophy. Click on the link to view a sample search on this topic.
Listen. Emery-Dreifuss muscular dystrophy is a condition that affects the joints, muscles, and heart. Joint symptoms tend to present in childhood and involve contractures of the elbows, ankles, and neck. Children and adults with this dystrophy usually experience slowly worsening muscle weakness and wasting.
You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
Muscle weakness typically begins in the upper arms and lower legs, followed by the shoulders and hips.
In X-linked Emery-Dreifuss muscular dystrophy an affected father cannot pass the condition to his sons, but all of his daughter's will be carriers for the condition (and therefore future grandson's will be at an increased risk). Female carriers of X-linked Emery-Dreifuss muscular dystrophy usually do not experience muscle weakness and wasting, but may develop heart problems associated with this disorder. [1]
Female carriers of X-linked Emery-Dreifuss muscular dystrophy usually do not experience muscle weakness and wasting, but may develop heart problems associated with this disorder. [1] You can read further details regarding X-linked, autosomal dominant, and autosomal recessive inheritance by clicking on the links below.
Like many other disorders, understanding and education about muscular dystrophy is the most important tool with which to manage and prevent complications. The following organizations can provide more information about muscular dystrophy:
There are more than 30 different types of muscular dystrophy. Some of the more common forms include: Duchenne muscular dystrophy (DMD): This condition tends to affect boys between the ages of 2 to 5, but girls can get it, too. You may notice that your toddler has a hard time running, walking or jumping.
Oculopharyngeal muscular dystrophy (OPMD): This rare form of muscular dystrophy weakens muscles in the eyelids and throat. Symptoms, such as droopy eyelids ( ptosis) and difficulty swallowing ( dysphagia ), often appear between the 40s and 60s. About one in 100,000 people have OPMD.
EDMD also affects the heart. Limb-girdle muscular dystrophy (LGMD): This disease affects the muscles closest to the body including the shoulders and hips. It affects people of all ages. Approximately two out of 100,000 people in the U.S. have LGMD.
Muscular dystrophy refers to a group of more than 30 inherited (genetic) diseases that cause muscle weakness. These conditions are a type of myopathy, a disease of the skeletal muscles. Over time, muscles shrink and become weaker, affecting your ability to walk and perform daily activities like brushing your teeth.
Emery-Dreiffus muscular dystrophy (EDMD): This condition tends to affect children. Symptoms, such as weak shoulders, upper arms and calf muscles, appear by age 10. EDMD also affects the heart.
You may notice that your toddler has a hard time running, walking or jumping. As the disease progresses, it can affect a child’s heart and lungs. DMD is the most common form of muscular dystrophy. It affects approximately six out of 100,000 children in North America and Europe.
Muscular dystrophies (MD) are a genetically and clinically heterogeneous group of rare neuromuscular diseases that cause progressive weakness and breakdown of skeletal muscles over time. The disorders differ as to which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Some types are also associated with problems in …
The signs and symptoms consistent with muscular dystrophy are:
• Progressive muscular wasting
• Poor balance
• Scoliosis (curvature of the spine and the back)
• Progressive inability to walk
The majority of muscular dystrophies are inherited; the different muscular dystrophies follow various inheritance patterns (X-linked, autosomal recessive or autosomal dominant). In a small percentage of patients, the disorder may have been caused by a de novo (spontaneous) mutation.
Currently, there is no cure for muscular dystrophy. In terms of management, physical therapy, occupational therapy, orthotic intervention (e.g., ankle-foot orthosis), speech therapy, and respiratory therapy may be helpful. Low intensity corticosteroids such as prednisone, and deflazacort may help to maintain muscle tone. Orthoses (orthopedic appliances used for support) and corrective orthope…