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.
What is the difference between myotonic dystrophy type 1 and type 2?
Myotonic dystrophy type 1 is caused by mutations in the DMPK gene, while type 2 results from mutations in the CNBP gene. The protein produced from the DMPK gene likely plays a role in communication within cells.
What is the difference between DM1 and DM2 myotonic dystrophy?
Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, intellectual disability and early death. DM type 2 (DM2) causes similar symptoms to DM1, but is generally a less severe disorder and does not cause congenital disease. DM1 is caused by an alteration in the DMPK gene.
How is myotonic dystrophy type 1 diagnosed?
The diagnosis of DM1 is suspected in individuals with characteristic muscle weakness and is confirmed by molecular genetic testing of DMPK. CTG repeat length exceeding 34 repeats is abnormal. Molecular genetic testing detects pathogenic variants in nearly 100% of affected individuals.
What is the life expectancy for someone with myotonic dystrophy?
Survival for 180 patients (from the register) with adult-onset type myotonic dystrophy was established by the Kaplan-Meier method. The median survival was 60 years for males and 59 years for females.
Is myotonic dystrophy a disability?
The official name of the Blue Book is Disability Evaluation Under Social Security. SSA doesn’t include myotonic dystrophy on the list of chronic illnesses or impairments provided in its Blue Book.
Is myotonic dystrophy considered a disability?
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 kind of medical assistance is needed for myotonic dystrophy?
There is currently no cure or specific treatment for myotonic dystrophy. Treatment is aimed at managing symptoms of the disease. Routine physical activity appears to help maintain muscle strength and endurance and to control musculoskeletal pain.
Does myotonic dystrophy affect memory?
Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as sleepiness, memory problems, and mental retardation.
What is the prognosis for people with myotonic dystrophy?
The outlook (prognosis) for each person with myotonic dystrophy may vary and depend on the particular type of myotonic dystrophy. It is a progressive disease and the symptoms worsen as a person gets older. Life expectancy is reduced for people with myotonic dystrophy type 1 (DM1).
What are early symptoms of myotonic dystrophy?
Some of the main signs and symptoms of Myotonic Dystrophy are: Gradually progressive muscular weakness. Slow atrophy, particularly of the neck and facial regions. Early baldness. Formation of cataracts (cloudy vision) Gonadal atrophy.
How can myotonic dystrophy affect your health?
How Myotonic Dystrophy can affect your health Muscle Weakness. Weakness is very variable and may range from mild to severe. Myotonia. Heart problems. Chest and Breathing problems. Tiredness and excessive sleepiness. Digestive problems. Eye problems. Problems with thinking and planning. Speech and Jaw Problems. Other Problems Include.
What is the life expectancy of congenital muscular dystrophy?
DMD affects about one in 5,000 males at birth. It is the most common type of muscular dystrophy. The average life expectancy is 26; however, with excellent care, some may live into their 30s or 40s.