What does myotonic dystrophy look like?
What does myotonic dystrophy look like?
A long, thin face with hollow temples, drooping eyelids and, in men, balding in the front, is typical in myotonic dystrophy. The muscles of the neck, jaw, and parts of the head and face may weaken, especially in DM1. Facial weakness is less common and milder in DM2.
How serious is myotonic muscular dystrophy?
Congenital myotonic dystrophy is often apparent at birth. Characteristic features include weak muscle tone (hypotonia), an inward- and upward-turning foot (clubfoot ), breathing problems, delayed development, and intellectual disability. Some of these health problems can be life-threatening.
What part of the body does myotonic dystrophy affect?
Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as smooth muscles (the muscles that control the digestive system) and cardiac muscles of the heart.
What are myotonic discharges?
1. Electrical myotonia is the spontaneous discharge of muscle fibers that waxes and wanes in both amplitude and frequency on electromyography (EMG). Myotonia is thought to be due to increased excitability of muscle fibers, leading to discharge of repetitive action potentials in response to stimulation.
Who is most likely to get myotonic dystrophy?
Myotonic dystrophy is a disease that affects the muscles and other body systems. It is the most common form of muscular dystrophy that begins in adulthood, usually in a person’s 20s or 30s. This disease is characterized by progressive muscle loss and weakness.
What triggers myotonic dystrophy?
Myotonic dystrophy Type 1 is caused by a mutation in the DMPK gene. Type 2 myotonic dystrophy is caused by a mutation in the CNBP gene. Mutations in each of these genes involve a short segment of DNA that is abnormally repeated many times. This abnormal repetition forms an unstable region of the gene.
Does myotonic dystrophy affect the brain?
It is now accepted that Myotonic Dystrophy can directly affect the brain. There are well described changes in structure which are visible on scans.
Which one of the following symptoms is most characteristic of someone who presents with myotonic dystrophy?
The most common symptoms are muscle weakness and pain, myotonia, and cataracts. However, some people will not develop these symptoms. Sometimes, the severity of these symptoms change in a person.
Does walking help muscular dystrophy?
Conclusions: Muscular exercise did not improve muscle strength and was associated with modest improvements in endurance during walking in patients with facio-scapulo-humeral and myotonic dystrophy.
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