Emery-Dreifuss muscular dystrophy (EDMD) is one of the muscular dystrophies. These are a group of rare, inherited muscle diseases (myopathies). EDMD causes weakness in your child’s shoulders, upper arms, and calves. The disease also causes stiff joints that can’t move well (contractures).
What is Dysferlinopathy?
Dysferlinopathies are a group of muscle diseases that have a slow progression of muscle weakness and atrophy (wasting). The diseases in the group are: Miyoshi myopathy, where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to the feet (distal myopathy)
What is the cause of Emery-Dreifuss Muscular Dystrophy?
Mutations in several genes, including EMD, FHL1, and LMNA, can cause Emery-Dreifuss muscular dystrophy. Mutations in the EMD gene or, less commonly, in the FHL1 gene cause the X-linked type of the condition. Mutations in the LMNA gene cause both the autosomal dominant and autosomal recessive types of the condition.
How common is EDMD?
Affected Populations The overall prevalence of EDMD is unknown. The X-linked form is estimated to affect 1 in 100,000 people in the general population. EDMD is believed to be the third most common form of muscular dystrophy.
Is Emery-Dreifuss muscular dystrophy fatal?
Emery-Dreifuss muscular dystrophy (EDMD) is a rare inherited disorder usually presenting in childhood with early contractures, slowly progressive humeral and posterior calf muscle weakness/atrophy, and potentially fatal dilated cardiomyopathy with conduction defects.
Is Dysferlinopathy fatal?
Some people with the disease can have a mild course, while others may have severe symptoms that can be fatal.
What is Miyoshi myopathy?
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves.
What are the symptoms of Becker muscular dystrophy?
What Are the Signs & Symptoms of Becker Muscular Dystrophy?
- have more difficulty with sports.
- have trouble climbing stairs.
- not be able to walk quickly, run smoothly, or maintain a running pace.
- have trouble lifting heavy loads.
- have calf muscles that look bigger than normal, even though they’re weaker.
What are the symptoms of Duchenne muscular dystrophy?
Duchenne type muscular dystrophy
- Frequent falls.
- Difficulty rising from a lying or sitting position.
- Trouble running and jumping.
- Waddling gait.
- Walking on the toes.
- Large calf muscles.
- Muscle pain and stiffness.
- Learning disabilities.
Is Emery-Dreifuss Muscular Dystrophy fatal?
How is EDMD treated?
No specific treatment exists for EDMD. Treatment is aimed at the specific symptoms present in each individual. Treatment options may include physical therapy and active and passive exercise to build muscle strength and prevent contractures. Surgery may be recommended in some cases to treat contractures or scoliosis.
What are the initial telltale symptoms of pancreatic cancer?
Belly or back pain. Pain in the abdomen (belly) or back is common in pancreatic cancer. Cancers that start in the body or tail of the pancreas can grow fairly large and start to press on other nearby organs, causing pain.
Can pancreatic cancer cause pain in the lower abdomen?
Pain in the abdomen or back is fairly common and is most often caused by something other than pancreatic cancer. Unintended weight loss is very common in people with pancreatic cancer. These people often have little or no appetite. If the cancer presses on the far end of the stomach it can partly block it, making it hard for food to get through.
When should I see a doctor about my pancreatic cancer symptoms?
See your doctor if you experience unexplained weight loss or if you have persistent fatigue, abdominal pain, jaundice, or other signs and symptoms that bother you. Many conditions can cause these symptoms, so your doctor may check for these conditions as well as for pancreatic cancer.
How does pancreatic cancer affect the whole body?
Pancreatic Cancer: Whole-Body Symptoms. As it grows and spreads, pancreatic cancer affects the whole body. Such symptoms can include: Weight loss. Malaise. Loss of appetite. Elevated blood sugars. Some people with pancreatic cancer develop diabetes as the cancer impairs the pancreas’ ability to produce insulin.
