How does myotonic dystrophy cause cataracts?

How does myotonic dystrophy cause cataracts?

An increased level of Gamma-Glutamyl Transpeptidase in these patients may be responsible for low levels of lenticular glutathione and thus leading to the cataract formation. A distinctive cataract presents in 100% of patients with either Myotonic Dystrophy, which can aid in the diagnosis of this complex disease.

Does myotonic dystrophy affect vision?

How does myotonic dystrophy type 1 affect vision? Myotonic dystrophy type 1 is associated with an increased risk for a variety of vision and eye problems, including: Drooping eyelids ( ptosis ) Cataracts.

What is a Christmas tree cataract?

A Christmas tree cataract is a rare age-related change resulting from accelerated breakdown of membrane-associated denatured proteins induced by elevated calcium levels.

Why does myotonic dystrophy worsen with each generation?

Genetic anticipation DM1 also exhibits a genetic inheritance pattern called anticipation. This means that the symptoms of the condition worsen and may appear earlier as the mutation is passed on from generation to generation. The type of mutation that causes myotonic dystrophy is called a nucleotide repeat expansion.

How does myotonic dystrophy affect the heart?

Myotonic dystrophy type 2 (DM2) is attributable to a CCTG repeat expansion in the CNBP gene, often to >5000 copies. Like DM1, DM2 is associated with an increased risk for atrial arrhythmias, conduction system slowing, ventricular arrhythmias, cardiomyopathy, and heart failure.

What is a snowflake cataract?

A snowflake type cataract is not very common and is associated with diabetes. It is derived from the fact that the lens looks like white opacities reminiscent of snowflakes. Snowflake cataracts can also occur in non-diabetics too, although very uncommonly. There is no known cause of these types of cataracts.

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.

Who is most likely to get myotonic dystrophy?

DM is the most common muscular dystrophy among adults of European ancestry. The prevalence of DM is about 10 cases per 100,000 individuals. Among nonwhite populations, DM1 is uncommon or rare. Reports from Europe suggest the prevalence of DM2 is similar to that of DM1.

Is myotonic dystrophy a terminal illness?

Myotonic dystrophy is a progressive or degenerative disease. Symptoms tend to worsen gradually over several decades. While no treatment exists that slows the progression of myotonic dystrophy, management of its symptoms can greatly improve patient quality of life.

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 are the types of myotonic dystrophy?

Types of Myotonic Dystrophy. Myotonic dystrophy (DM) includes two major types — DM1 and DM2 — both caused by genetic defects. They result in multisystem disorders characterized by skeletal muscle weakness and myotonia (difficulty relaxing muscles after use), cardiac abnormalities, cataracts, and other abnormalities.