Aakash Reddy

Ms. Sappington

Honors Biology

Feb 2, 2019

Myotonic Dystrophy Research

Myotonic dystrophy is one of many inherited disorders called muscular dystrophies. It is

the most common form of muscular dystrophy that usually begins in adulthood. Myotonic

dystrophy is characterized by progressive muscle weakness. People with this disorder often have

prolonged muscle contractions, also known as myotonia, and are not able to relax certain

muscles after use. For example, a person may have difficulty releasing their grip on a doorknob

or handle. Also, affected people may have stuttered or temporary locking of their jaw. In which

you can’t eat, drink or breathe through your mouth.

Signs and symptoms of myotonic dystrophy include: burry image, random abnormalities

of the electrical signals that control the heartbeat and in males, hormonal changes may lead to

early balding and the inability to reproduce in some cases. You also will experience weak

muscles throughout the body and the inability in some cases to walk and to lift objects like a cup

of water or a backpack for example.

There are specifically two types of myotonic dystrophy. More often called myotonic

dystrophy type 1 and myotonic dystrophy type 2. Abbreviated as DM 1 and DM 2, people are

usually classified into these groups due to their geographic and ethnic populations. Type 1’s

symptoms tend to be more harsh than type 2’s. The muscle weakness of type 1 affects your lower
body from your feet to our waist and type two affects the upper body from the waist to the

shoulders

Some interesting facts about myotonic dystrophy are that it affects nearly 1 in every

8,000 people worldwide. The type of Myotonic Dystrophy type 1 and type two all depend on the

geographic area you live in. The presence of the two types of the disorder vary among different

geographic and ethnic populations. In many populations, type 1 appears to be more prevalent

than type 2. It is usually abbreviated as DM not MD or MD1 and MD2 (type 1 and 2). It affects

nearly 100,000 Americans alone.

Myotonic dystrophy was found by Hans Steinert, who in 1909 originally named it

Steinert disease, in which many refer to today, however it is most commonly known as myotonic

dystrophy and scientists across the world. Without his research we could have been waiting for

years for us to understand the disorder. The disorder is similar to muscular dystrophy however,

“Muscular dystrophy (MD) refers to a group of nine genetic diseases that cause progressive

weakness and degeneration of muscles used during voluntary movement” (MDF 1).

According to The Myotonic Dystrophy Foundation, “Both DM1 and DM2 are passed

from parent to child by autosomal dominant mutations. This means that the faulty gene is located

on an autosome and that only a dominant allele is needed for Myotonic dystrophy to show”

(MDF 2). Which makes it a dominantly affected trait. And because the gene is not located on any

of the sex chromosomes, it can be passed to any of the offspring. Furthermore, DM1 is located

on chromosome 19 and DM2 is located on chromosome 3. DM1 is caused by mutations in the

DMPK gene and DM2 Is caused by mutations in the CNBP gene.

 As MD is passed from one offspring to another, it generally begins earlier in life and

signs and symptoms become more severe. This phenomenon, called anticipation, has been

reported with both types of myotonic dystrophy. As I mentioned earlier it affects certain

Geographical regions however, research done in the 21st century has conducted a study that

shows many Finish and German people that both have DM2. Most people starts to get DM1 and

DM2’s symptoms at the age of 60. And is one of nine forms of muscular dystrophies that occur

in most people’s thirties.

According to genome,org, “There is currently no cure or specific treatment for myotonic

dystrophy. Ankle supports and leg braces can help when muscle weakness gets worse. There are

also medications that can lessen the myotonia.” This is especially frightening as this is only one

of nine forms of muscular dystrophy.

Getting an initial diagnosis starts with a complete family history and physical

examination. Usually someone will undergo a string of medical tests. If the diagnosis tests

negative, another process is electromyography, also known as EMG, and this procedure detects

the presence of myotonia in high proportion including DM1 and DM2. However, more

importantly to confirm the finding a blood test is needed to see if that person has the mutation.

Prenatal testing is also available if DM is in your family.

Researchers at The Scripps Research Institute in Florida recently created a new chemical

modification to increase the potency of a medicine that targets the unhealthy RNA associated

with DM. Secondly, scientists from Baylor College of Medicine have investigated defects that

occur in muscles of individuals with DM1. However other than this, there isn’t much research

being undergone.
 I will be showing a pedigree on my PowerPoint and I will also show a cross between

multiple people with a person with DM without it and carriers as well.

 Works Cited

Steinberg, H, and A Wagner. “[Hans Steinert: 100 Years of Myotonic Dystrophy].” Current

Neurology and Neuroscience Reports., U.S. National Library of Medicine, Aug. 2008,

www.ncbi.nlm.nih.gov/pubmed/18566789.

“Myotonic Dystrophy.” Genetic and Rare Diseases Information Center, U.S. Department of

Health and Human Services, 21 Aug. 2017,

www.rarediseases.info.nih.gov/diseases/10419/myotonic-dystrophy

“Learning About Myotonic Dystrophy.” National Human Genome Research Institute (NHGRI),

National Human Genome Research Institute, 5 July 2017,

www.genome.gov/25521207/learning-about-myotonic-dystrophy/.

Dystrophy Foundation, Myotonic. “Testing and Diagnosis.” Testing and Diagnosis for DM, The

Myotonic Dystrophy Foundation, 30 Aug. 2018, www.myotonic.org/living-dm/testing-

and-diagnosis.

K., Haley. “Current DM Research Update.” Current Research of DM, The Myotonic Dystrophy

Foundation, 29 Apr. 2015, www.myotonic.org/current-dm-research-update.