Muscular Dystrophy

  • November 11th, 2022
Muscular Dystrophy

What Is Muscular Dystrophy?

Muscular Dystrophy is a genetic disorder that effects the muscles and causes them to weaken.

People with Muscular Dystrophy have progressive, severe muscle weakness and loss of muscle tissue that worsens over time. It can also cause respiratory problems, cardiac muscle disease, metabolic abnormalities, bone abnormalities, and scoliosis.

There are 9 types of Muscular Dystrophy. The most common type is Duchenne Muscular Dystrophy which is caused by the absence of dystrophin protein in muscles.

Symptoms of Muscle Disease in Adults

Muscle diseases can be caused by different factors including muscle damage, muscle inflammation, muscle degeneration and lack of oxygen to the muscles. Muscle disease in adults can be caused by many different things including injury, inflammation, degeneration and a lack of oxygen to the muscles. We should take note that this is not a comprehensive list and that there are many other causes for muscle disease in adults.

Symptoms of Muscle Disease in Children

Muscle diseases are most commonly seen in children who have Duchenne muscular dystrophy and Becker muscular dystrophy.

As these disorders progress, the child will start to feel weakness or slow reflexes. The child may also have trouble with walking, climbing stairs, and sitting up straight. It’s important for parents to be aware of these symptoms so they can get treatment as soon as possible.

Muscular Dystrophy Types

Muscular Dystrophy affects the skeletal muscles and it is a genetic disorder. It can affect males or females of any age. One in every 3,500 children born in the United States has this disorder.

There are nine different forms of muscular dystrophy:

  • Myotonic

  • Duchenne

  • Becker

  • Limb-girdle

  • Facioscapulohumeral

  • Congenital

  • Oculopharyngeal

  • Distal

  • Emery-Dreifuss

The two most common forms of muscular dystrophy are Duchenne's muscular dystrophy and Becker's muscular dystrophy. Duchenne's is the most common type affecting 1 out of every 3500 male infants born worldwide with symptoms appearing by six years of age. Becker's affects about 1 out of every 1500 male infants with symptoms appearing around puberty or later in life.

Duchenne's muscular dystrophy

Duchenne muscular dystrophy is a progressive muscle-wasting disorder that affects approximately 1 in 3,600 male births.

The Duchenne muscular dystrophy is a progressive muscle-wasting disorder that affects approximately 1 in 3,600 male births. Duchenne muscular dystrophy, also known as DMD, is caused by the absence of a protein called dystrophin which weakens muscles and eventually causes them to stop working. Usually symptoms show up during the first seven years of life and worsen over time.

People with this disease typically experience muscle weakness in their hips, upper thighs, shoulders and upper arms. It can also affect other parts of the body like the heart and respiratory muscles leading to death.

The most common cause of death for people who have trouble breathing is called pulmonary edema. Pulmonary edema is the accumulation of fluid in the spaces between the air sacs (alveoli) in the lungs, which makes it difficult to exchange oxygen and carbon dioxide. The fluids are usually a watery mixture of proteins, salt, and other substances that leak out of small blood vessels in the lungs.

Becker's muscular dystrophy

Becker's muscular dystrophy is a rare disease. It is caused by a mutation in the DMD gene. It can be inherited or it can come from a new mutation in the nuclear DNA.

The Becker's muscular dystrophy is a type of limb-girdle muscular dystrophy, which means it starts from muscles near the pelvis and spreads through other parts of the body. The symptoms include difficulty walking, loss of muscle strength, slow progression to wheelchair dependency and respiratory complications.

To diagnose Becker's disease, doctors will test for Duchenne Muscular Dystrophy mutations or any neurological symptoms that might indicate this condition. They will also do an exam of the patient’s skeletal muscles and joints to check for weakness or atrophy around these areas.

Myotonic muscular dystrophy

It is also called: Steinert's disease, Rett syndrome, and myotonia congenita.

Myotonic muscular dystrophy gets its name from the characteristic myotonia, or prolonged contraction of muscles after extended periods of rest or inactivity. Myotonic means "muscle-twitching." Individuals with this condition have excessive and uncontrolled muscle movement or contractions at rest, which are often triggered by emotional stress. The disorder also causes significant weakness, gradual loss of motor function and hypertrophy (enlargement) in areas such as the calves.

Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophy is a disease that affects the muscles around the hips, shoulders, and knees. There are three main types of limb-girdle muscular dystrophy:

1. Autosomal recessive type 2D (ARMD2D)

2. Autosomal dominant type 2B (ARMD2B)

3. X-linked type 2C (XLMD2C)

People with ARMD can have mild or severe symptoms depending on the severity of the mutation in their gene.

Facioscapulohumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy is a form of muscular dystrophy that affects the muscles of the face, shoulder, and upper arm. The disease causes weakness in the muscles that control movement and can make it difficult to do daily activities like eating.

FSHD is caused by a mutation in a gene called D4Z4. This gene is what tells cells how to make muscle fibers or myonuclei. When cells have too few or too many myonuclei, they can't grow and function normally which leads to FSHD symptoms.

Patients with FSHD are usually diagnosed when they are in their teens but symptoms may not show up until adulthood because it takes time for damage to accumulate in the body's muscles.

Congenital muscular dystrophy

Congenital muscular dystrophy is a disorder that babies are born with, which causes them to be born with muscles that do not work properly. This can lead to difficulties in performing the simple tasks of everyday living due to the limitations of their muscles.

Oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy is a neuromuscular disorder that is characterized by weakness of the muscles in the eye socket and throat.

Congenital muscular dystrophy is a condition that is present at birth, which can cause muscles to not function as they should. (OPMD) is a rare, slowly progressive muscle disease that causes facial weakness and difficulty swallowing. The condition affects just one in one million people and leads to severe disability.

There are three types of OPMD: Incomplete, Distal, and Proximal. Each type varies in symptoms but all of them involve trouble swallowing food due to muscle weakness in the throat.

Distal muscular dystrophy

People with distal muscular dystrophy have progressive muscle weakness. The muscles in the hands, arms, shoulders, hips, and legs gradually weaken. This is because the muscles are deteriorating from the inside due to a genetic disorder that results in a build-up of protein called alpha-sarcoglycan.

Emery-Dreifuss muscular dystrophy

Emery-Dreifuss muscular dystrophy is a rare form of muscular dystrophy that only affects boys. It was first discovered in 1894 by a Dr. Emery and a Dr. Dreifuss.

Emery-Dreifuss muscular dystrophy is caused by mutations in the DMPK gene, which makes it difficult for patients to produce proteins needed for muscle function and survival. Symptoms include: difficulty walking, difficulty breathing, stiff muscles, abnormal gait, deformities of the hands and feet, facial asymmetry or drooping eyelids.

Patients often need assistance when they are trying to walk or do everyday tasks such as brushing their teeth or washing dishes.

Nutrition Services and Genetic Counseling

Patients with muscular dystrophy have different nutritional needs because they are unable to digest or absorb nutrients. Genetic counselors help patients through the process of getting their genetic testing done and interpreting the results.

Nutrition Services: Patients with muscular dystrophy have a difficult time absorbing nutrients, so they need to be careful about what they eat and how much food they consume. Dietitians can provide them with advice in order to meet their nutritional needs without having to take prescription medications. They also recommend vitamin supplements that may help them gain or maintain muscle mass, or avoid common nutrient deficiencies.

In the case of muscular dystrophy, there are two types of genetic counseling: prenatal and pre-symptomatic.

Prenatal genetic counseling focuses on women who are pregnant with an affected fetus or who might become pregnant in the future. The counselor will discuss with them how to manage their pregnancy and delivery so as to minimize the risk of complications.

Pre-symptomatic genetic counseling happens when a person has a family history of muscular dystrophy but does not have any symptoms himself/herself. The counselor will discuss with the patient how they can live a fulfilling life in spite of knowing that they may develop symptoms or pass it on to their children someday.

Social Services Assistance Programs

Social services assistance programs help muscular dystrophy patients with their daily life.

The goal of these programs is to support people who have a degenerative muscle disease or disorder. They are designed to provide services and life assistance, such as home healthcare, transportation, and more.

Muscular Dystrophy Diagnosis

  • The first step of the diagnosis process will involve a physical examination of your child and a discussion about his or her medical history. In addition, diagnostic tests may be performed to confirm or rule out the diagnosis. The most common tests used are as follows:

  • A piece of muscle tissue is removed and examined to confirm the diagnosis or rule out another muscle disease. A biopsy generally provides more information than just a blood test.

  • Genetic testing. Our genes provide different advantages and disadvantages. A blood test can show if you or your kids have the gene that leads to muscle dystrophy.

  • Neurological tests. There are a number of different tests you can perform to check on the nervous system, reflexes, and coordination. Examples of these include [[everything I need to know about EMG]], nerve conduction studies, and [[every other thing I need to know about EMG]].

  • Enzyme tests are blood panels that measure the enzyme levels related to muscle weakness. People with certain diseases have a high level of the enzyme creatine kinase, which is produced when muscles are damaged. They also have a higher level of "aldolase" (this is a sugar conversion enzyme our bodies produce when we break down food for energy).

  • Heart monitoring. Doctors may do a heart monitoring test to check the heart for any abnormalities. Some types of muscular dystrophy can cause irregular pumping and an electrocardiogram can monitor this in order to detect an issue early on.

  • Diagnosis is made through magnetic resonance imaging (MRI) or ultrasound. These tests allow the doctor to see muscle quality as well as fat deposition.

Muscular Dystrophy Treatment

There is no cure for muscular dystrophy but treatments can help control symptoms and generally improve quality of life

Medications

Prescription drugs are available to control or prevent symptoms of muscular dystrophy. Common medications used for this condition include:

  • Steroids. Corticosteroids such as Prednisone and Deflazacort are commonly used to treat muscular dystrophy. They improve muscle strength and breathing, which helps decrease weakness. Possible side effects of steroid use include high blood pressure and weight gain. Long-term steroid users are also at risk for brittle bones.

  • Medicines targeting gene mutations. Eteplirsen (Exondys 51) and golodirsen (Vyondys 53) increase the level of the gene dystrophin. They’re approved to treat Duchenne muscular dystrophy."

  • Anticonvulsants. These antiseizure pills may also help you control muscle spasms

  • Immunosuppressants. These medicines can be used to treat lupus and other autoimmune disorders. They may also prevent muscle damage in people suffering from muscular dystrophy when taken.

  • Antibiotics. The doctor may prescribe an antibiotic to treat a lung infection which is very common in people with muscular dystrophy.

Muscular Dystrophy treatment for adults

Muscular Dystrophy is a chronic progressive disease that affects the muscles of the body. It can be debilitating and life-threatening.

There are no cures for muscular dystrophy at this time, but there are treatments that can help with the symptoms. There is also a gene therapy being developed that will allow muscle cells to be repaired and grow when they start to degenerate.

Muscular dystrophy is a rare disease that can improve if treated early in life. The more we know about it, the more we understand how to treat it. We need to keep pushing forward with research and development so we know how to cure this dreadful disease one day soon.

[caption id="attachment_4032" align="aligncenter" width="878"]Kid Muscular Dystrophy child in wheelchair[/caption]
Muscular Dystrophy treatment for kids

Muscular dystrophy is a hereditary and degenerative disease. It's characterized by muscle wasting, weakness, and eventually paralysis. In this article we will take a look at the treatment options for kids with muscular dystrophy.

Muscular Dystrophy is caused due to defects in the dystrophin protein or its related protein called utrophin. The defective dystrophin protein leads to problems in muscle cells which then cause muscle weakness and wasting which, if left untreated, progresses to paralysis.

There are various treatments available for muscular dystrophy patients who have not yet reached adulthood such as steroids, chemotherapy drugs, and immunosuppressants. For patients who are adults or teenagers- there is limited treatment options such as stem cell transplants that can delay progression of the disease.

Please call Superior Compounding Pharmacy in Plymouth Michigan to speak with one of our licensed pharmacists today at 734-404-6065. We can help answer any medication questions that you may have.

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