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Some symptoms consistent with Becker muscular dystrophy are:
Individuals with this disorder typically experience progressive muscle weakness of the leg and pelvis muscles, which is associated with a loss of muscle mass (wasting). Muscle weakness also occurs in the arms, neck, and other areas, but not as noticeably severe as in the lower half of the body.Calf muscles initially enlarge during the ages of 5-15 (an attempt by the body to compensate for loss of muscle strength), but the enlarged muscle tissue is eventually replaced by fat and connective tissue (pseudohypertrophy) as the legs become less used (with use of wheelchair).
Possible complications associated with MD are cardiac arrhythmias.(BMD) Becker muscular dystrophy also demonstrates the following:
- Mental impairment (less common in BMD than it is in DMD.)
- Pulmonary failure
- Pneumonia
Symptoms of EDMD begin in teenage years with toe-walking, rigid spine, face weakness, hand weakness and calf hypertrophy. Among other signs/symptoms of Emery–Dreifuss muscular dystrophy are:
- "Muscle weakness" EDMD can affect the shoulders and lower legs
- "Cardiac involvement" can affect an individuals heart rate (bradycardia, palpitations)
- "Contractures" of the muscles occurs slowly, eventually leading to the need for orthopedics (walker, cane)
Muscular dystrophy (MD) is a group of muscle diseases that results in increasing weakening and breakdown of skeletal muscles over time. The disorders differ in which muscles are primarily affected, the degree of weakness, how fast they worsen, and when symptoms begin. Many people will eventually become unable to walk. Some types are also associated with problems in other organs.
There are nine main categories of muscular dystrophy that contain more than thirty specific types. The most common type is Duchenne muscular dystrophy (DMD) which typically affects males beginning around the age of four. Other types include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy. They are due to mutations in genes that are involved in making muscle proteins. This can occur due to either inheriting the defect from one's parents or the mutation occurring during early development. Disorders may be X-linked recessive, autosomal recessive, or autosomal dominant. Diagnosis often involves blood tests and genetic testing.
There is no cure for muscular dystrophy. Physical therapy, braces, and corrective surgery may help with some symptoms. Assisted ventilation may be required in those with weakness of breathing muscles. Medications used include steroids to slow muscle degeneration, anticonvulsants to control seizures and some muscle activity, and immunosuppressants to delay damage to dying muscle cells. Outcomes depend on the specific type of disorder.
Duchenne muscular dystrophy, which represents about half of all cases of muscular dystrophy, affects about one in 5,000 males at birth. Muscular dystrophy was first described in the 1830s by Charles Bell. The word "dystrophy" is from the Greek "dys", meaning "difficult" and "troph" meaning "nourish". Gene therapy, as a treatment, is in the early stages of study in humans.
The types of Emery–Dreifuss muscular dystrophy are distinguished by their pattern of inheritance: X-linked, autosomal dominant, and autosomal recessive.
- Autosomal dominant "Emery–Dreifuss muscular dystrophy" individuals experience heart problems with weakness (and wasting) of skeletal muscles and Achilles tendon contractures.
- X-linked "Emery–Dreifuss muscular dystrophy" is the result of the EMD gene, with cardiac involvement and some mental retardation.
- Autosomal recessive individuals with this type of the disorder demonstrate cardiac issues, such as arrhythmia. Individuals who acquire EDMD via the autosomal recessive route have an incidence of 1 in 300,000.
The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient's medical history will help the doctor determine the type of muscular dystrophy. Specific muscle groups are affected by different types of muscular dystrophy.
Other tests that can be done are chest X-ray, echocardiogram, CT scan, and magnetic resonance image scan, which via a magnetic field can produce images whose detail helps diagnose muscular dystrophy.