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.
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.
How do you slow down Myotonic Dystrophy?
No treatments currently exist that slow the progression of myotonic dystrophy, but symptomatic treatments are available. Managing the symptoms of this disease can reduce suffering and improve quality of life for patients. Ongoing monitoring can avert or reduce the complications seen at critical times.
Does cold weather affect muscular dystrophy?
Winter weather should not directly affect muscular dystrophies. However, the limitations imposed by muscle weakness of any origin are magnified during the conditions of winter weather including the cold. These problems will resolve once these conditions change as do the seasons.
Does myotonic dystrophy cause back pain?
Pain in DM1 has mostly been studied by surveys [6,7,8,9]. Jensen et al. found that 60% of DM1 patients reported chronic pain, most frequently located in the lower back. Other areas included hands, legs, knees, ankles and feet, with a mean intensity of 4.5 measured on a numeric rating scale from 0 to 10 [6].
Is myotonic muscular dystrophy painful?
MMD patients may experience painful muscle cramping because of myotonia, which is delayed relaxation or sustained contraction of the muscle fibers. Grip myotonia can be shown by delayed opening of the hand with difficulty extending the fingers after tight grip.
What is the prognosis for people with myotonic dystrophy?
MedlinePlus Genetics contains information on Myotonic dystrophy.
What are the most common myotonic dystrophy symptoms?
– Intellectual disabilities can be seen in all types but are not universal for all types of DM. – Cerebrovascular accidents can occur secondary to DM associated atrial fibrillation. – Anxiety and depression due to the loss of functional status – Hypersomnia and sleep apnea are common due to sleep cycle dysfunctions. – Ventriculomegaly is seen in congenital DM.
How do people get myotonic dystrophy?
“Myotonic dystrophy is typically inherited from a person’s parents, following an autosomal dominant inheritance pattern. There are two main types: type 1 (DM1), due to mutations in the DMPK gene, and type 2 (DM2), due to mutations in the CNBP gene. The disorder generally worsens in each generation. A type of DM1 may be apparent at birth.
Is there a prenatal test for myotonic dystrophy?
Prenatal testing is when a fetus’s DNA is checked to see if they have the myotonic dystrophy mutation. This allows parents to know ahead of time if the baby will likely have the disease so they can best prepare. Prenatal testing for DM is performed with a test called chorionic villus sampling, or CVS, or with another test called an amniocentesis.