Bay Biosciences provides high-quality biopsy fresh frozen tissue samples, with matched fresh frozen sera (serum), plasma, and peripheral blood mononuclear cells (PBMC) bio-fluids, from patients diagnosed with myotonic muscular dystrophy (MD).
The sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid specimens are processed from patients peripheral whole-blood using customized collection and processing protocols from myotonic muscular dystrophy DM1.
Fresh frozen tissue and matched biofluid samples were, collected from unique patients diagnosed with myotonic muscular dystrophy (MD).
Bio-samples are provided to a valued pharmaceutical customer for research, diagnostics, discovery, and drug development.
Myotonic Dystrophy Overview
Myotonic dystrophy (DM) is a form of muscular dystrophy that affects muscles and many other organs in the body. The word “myotonic” is the adjectival form of the word “myotonia,” defined as an inability to relax muscles at will.
The term “muscular dystrophy” means progressive muscle degeneration, with weakness and shrinkage of the muscle tissue.
Myotonic dystrophy (DM) is an inherited multisystem condition that mainly causes progressive muscle loss, weakness and myotonia. It can also affect other parts of your body, including your heart, lungs and eyes.
There’s no cure for DM, but certain treatments and therapies can help manage symptoms and improve quality of life.
Myotonic dystrophy (DM) is a complex, inherited condition that mainly causes progressive muscle atrophy and weakness. Patients with the condition often have prolonged muscle contractions (myotonia) and can’t relax certain muscles after using them.
Myotonic dystrophy (DM) has a wide range of symptoms. It can affect several body systems, including your:
- Cardiovascular system
- Central nervous system
- Endocrine system
- Eyes
- Skeletal muscles and heart muscles.
How Common is Myotonic Dystrophy
Myotonic dystrophy diagnoses are most likely to occur in adults in their 20s. The severity of symptoms can vary greatly. Some patients experience mild symptoms, while others have potentially life threatening symptoms involving the heart and lungs. Many individuals with the condition live a long life.
About 8 in 100,000 people in the United States have myotonic dystrophy. It affects all sexes equally.
Myotonic dystrophy (DM) affects at least 1 in 8,000 people across the world, though the prevalence of it varies among different geographic and ethnic populations. DM is the most common muscular dystrophy in people of European ancestry.
In most populations, type 1 is more common than type 2.
Types of Myotonic Dystrophy
There are two main forms of myotonic dystrophy:
- Myotonic dystrophy type 1 (DM1), also known as Steinert disease. DM1 has four types: classic, mild, congenital and childhood.Type 1 DM (DM1), long known as Steinert disease, occurs when a gene on chromosome 19 called DMPK contains an abnormally expanded section located close to the regulation region of another gene, SIX5.
- Myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy.
Type 2 DM (DM2), recognized in 1994 as a milder version of DM1, is caused by an abnormally expanded section in a gene on chromosome 3 called ZNF9. DM2.
Their symptoms overlap, but DM2 tends to be milder than DM1.
Muscular Dystrophy vs Myotonic Dystrophy
Muscular dystrophy refers to a group of more than 30 inherited (genetic) conditions that cause muscle weakness. These conditions are a type of myopathy, a disease of your skeletal muscles. Over time, your muscles shrink and become weaker. This affects your ability to walk and perform daily activities. It can also affect your heart and lungs.
Myotonic dystrophy is one type of muscular dystrophy. It’s the most common form of muscular dystrophy that begins in adulthood. (But certain types of myotonic dystrophy begin in infancy or childhood.)
Who gets Affected by Myotonic Dystrophy?
Different forms of myotonic dystrophy begin at different ages:
- Classic myotonic dystrophy type 1: This form usually begins in the 20s, 30s or 40s.
- Mild myotonic dystrophy type 1: This form affects patients from 20 to 70 years old (typically after the age of 40).
- Congenital myotonic dystrophy type 1: This form affects infants (“congenital” means “present at birth”).
- Childhood myotonic dystrophy type 1: This form usually begins around the age of 10.
- Myotonic dystrophy type 2: This form typically begins in adulthood. The average age of onset is 48 years.
Signs and Symptoms of Myotonic Dystrophy
The main symptoms of myotonic dystrophy include the following, which get progressively worse over time:
- Muscle atrophy (wasting).
- Muscle weakness.
- Myotonia.
Myotonia is the inability to relax muscles at will. For example, it may be difficult for someone with DM to let go of a door handle after grasping it.
However, DM can affect many different parts of your body and cause a variety of other symptoms. The severity and rate at which these symptoms develop depend on the type of DM.
Symptoms of Classic Myotonic Dystrophy Type-1
Symptoms of classic myotonic dystrophy type 1 begin in adulthood. Myotonia is the main initial symptom. It’s often more obvious after rest and improves with muscle activity.
Other symptoms include:
- A thin, sharp face (myopathic face) due to wasting of facial muscles.
- Distal muscle weakness (the muscles farthest from the center of your body), which results in difficulty with fine motor tasks involving your hands and an impaired gait due to foot drop.
- Heart conduction abnormalities.
Causes of Myotonic Dystrophy
Myotonic dystrophy (DM) is inherited (passed from parent to biological child).
Mutations (changes) in the DMPK gene cause myotonic dystrophy type 1, while mutations in the CNBP gene cause type 2.
Similar changes in the structure of the DMPK and CNBP genes cause myotonic dystrophy type 1 and type 2. In each case, a segment of DNA is abnormally repeated many times, forming an unstable region in the gene. The more times the DNA is abnormally repeated, the more severe the symptoms of DM are.
Scientific evidence suggests that excess messenger RNA generated from the abnormal DNA repeats is toxic and interferes with the production of many proteins in cells, which, in turn, causes signs and symptoms in various organs in myotonic dystrophy.
Genetics and Myotonic Dystrophy
Both types of myotonic dystrophy are inherited in an autosomal dominant pattern. When a trait is autosomal dominant, only one parent needs to have an altered gene to pass it on. Half of the children of a biological parent with an autosomal trait will get that trait.
As myotonic dystrophy type 1 is passed from one generation to the next, the condition generally begins earlier and earlier in life, and signs and symptoms become more severe. This phenomenon is called anticipation.
Diagnosis Myotonic Dystrophy
The diagnosis of Myotonic Dystrophy is based on the clinical history, including a family history, physical examination and supporting laboratory studies. Supporting laboratory studies may include blood work, electrodiagnostic testing (EMG) and muscle biopsy.
A definitive diagnosis is usually possible by a blood test to determine the specific genetic defect responsible for myotonic dystrophy type-1 or type-2.
Genetic testing can confirm a diagnosis of myotonic dystrophy (DM). The testing looks for mutations in the DMPK gene (in DM1) or the CNBP gene (in DM2).
If your doctor is unsure if you may have DM or another condition, they may order one or more of the following tests before recommending genetic testing:
- Creatine Kinase Blood Test: Creatine kinase is an enzyme that mainly exists in your heart and skeletal muscle. The cells in your skeletal muscles or heart muscles release creatine kinase into your blood when they’re damaged. In people with mild myotonic dystrophy, it may be mildly elevated but is typically normal.
- Electromyogram (EMG): This test involves checking electrical activity of muscle fibers using a fine needle electrode that’s inserted into your muscles. Typically, people with myotonic dystrophy have excessive waxing and waning electrical activity in their muscles at rest.
- Muscle Biopsy: For a muscle biopsy, a provider will remove a small sample of tissue and cells from one of your muscles. They’ll then analyze it under a microscope to look for signs of DM.
Your healthcare provider may also recommend the additional following tests to check the functioning of certain organs DM can affect.
- Electrocardiogram to check your heart function.
- Pulmonary function Tests (PFT) to check for neuromuscular respiratory failure.
- Sleep study to check for obstructive sleep apnea and hypersomnia (daytime sleepiness).
Treatment of Myotonic Dystrophy
There’s no cure for myotonic dystrophy (DM). Treatment instead focuses on:
- Managing symptoms.
- Maximizing quality of life and independence.
Myotonic dystrophy can affect many different parts of the body. Depending on the patients symptoms, treatment may include the following:
- A CPAP machine for sleep apnea.
- Cataract Surgery for cataracts that impair the vision.
- Medications that reduce sustained myotonia, including sodium channel blockers such as mexilentine, tricyclic antidepressants, benzodiazepines or calcium antagonists.
- Neurostimulants such as methylphenidate for excessive daytime sleepiness.
- Synthetic testosterone for the treatment of low testosterone (male hypogonadism) Men and people assigned male at birth with DM1 commonly have low testosterone and erectile dysfunction.
- Treatment for diabetes, which may involve medications in pill form and/or insulin. People with DM are at an increased risk of diabetes from insulin resistance.
Physical and occupational therapy are a significant part of maximizing independence for patients with myotonic dystrophy.
t can help strengthen the muscles and help the patient learn new ways of performing daily tasks. Assistive devices, such as braces, canes or a wheelchair can also help with independence.
Speech-language pathology (SLP) can help with difficulty swallowing (dysphagia) and slurred speech (dysarthria).
Prevention of Myotonic Dystrophy
As myotonic dystrophy (DM) is an inherited condition, there’s nothing you can do to prevent it.
If you’re concerned about the risk of passing on DM or other genetic conditions before trying to have a biological child, talk to your healthcare provider about genetic counseling.
Prognosis of Myotonic Dystrophy
The prognosis of myotonic dystrophy (DM) depends on the type and the age it begins. An earlier age of symptom onset is generally associated with poorer outcomes and reduced survival rates.
Up to 50% of patients with myotonic dystrophy type-1 (DM-1) need a wheelchair for mobility before death. Patients with myotonic dystrophy type-2 have milder symptoms and typically don’t need assistive devices for mobility.
Life Expectancy of Patients with Myotonic Dystrophy
The average life expectancy for patients with myotonic dystrophy depends on the type.
The neonatal mortality rate (death that occurs within 28 days after birth) is around 18% for infants with congenital DM1. About 25% of patients with congenital DM1 die before 18 months of age and 50% die before their mid-30s.
Patients with mild DM-1 usually have normal lifespans. Lifespan is reduced compared to average in classic DM1.
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