What is the dysferlin gene?
The DYSF gene provides instructions for making a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers. Dysferlin is thought to aid in repairing the sarcolemma when it becomes damaged or torn due to muscle strain.
Where is dysferlin found?
Dysferlin is highly expressed in muscle, and is homologous to the ferlin family of proteins, which are thought to regulate membrane fusion across a wide variety of species and cell types. Several lines of evidence suggest that dysferlin may be involved in membrane repair in muscle.
What do you mean by muscular dystrophy?
Overview. Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.
What is distal muscular dystrophy?
Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). DD causes weakness that starts in the lower arms and legs (the distal muscles). It then may gradually spread to affect other parts of your body. The muscles shrink (atrophy).
What are the stages of muscular dystrophy?
What are the 5 general stages in Duchenne?
- Diagnosis (infancy/childhood)
- Early ambulatory (childhood)
- Late ambulatory (late childhood/adolescent/young adult)
- Early non-ambulatory (adolescent/young adult)
- Late non-ambulatory (adult)
How long can you live with distal muscular dystrophy?
Until recently, children with Duchenne muscular dystrophy (DMD) did not often live beyond their teens. However, improvements in cardiac and respiratory care mean that life expectancy is increasing, with many DMD patients reaching their 30s, and some living into their 40s and 50s.
What are signs of distal muscular dystrophy?
Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well. Intellect isn’t affected in this disease.
What is the last stages of muscular dystrophy?
Patients exhibit symptoms of ventilatory insufficiency, the first to be noticed are those associated with CO2 retention: dyspnea, nightmares, increased heart rate, and increased blood pressure. Ten patients with late stage Duchenne muscular dystrophy have been supplied with mechanical aid for ventilatory assistance.
What is the mildest form of muscular dystrophy?
Distal Muscular Dystrophy The disease progresses slowly and is considered a mild form of MD.
Can a 60 year old get muscular dystrophy?
Key points about distal muscular dystrophy It usually begins in adulthood and has several forms. DD usually affects the muscles in the lower arms or leg. But it may also affect other parts of the body. DD usually shows up between ages 40 and 60, but it can sometimes show up as early as the teenage years.