Skip to main content

Distal Muscular Dystrophy

Distal Muscular Dystrophy



Overview

Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). DD causes weakness that starts in the lower arms and legs (the distal muscles). It then may gradually spread to affect other parts of your body. The muscles shrink (atrophy). DD has several forms. DD usually appears between ages 40 and 60. But it can sometimes show up as early as the teenage years. DD affects both men and women.

Muscular dystrophy refers to a group of more than 30 genetic (inherited) conditions that affect the functioning of your muscles. In general, the symptoms of muscular dystrophy worsen over time. These conditions are a type of myopathy, a disorder of your skeletal muscles.

Depending on the type, muscular dystrophy can affect your ability to move, walk and perform daily activities. It can also affect muscles that help your heart and lungs function.

Some forms of muscular dystrophy are present at birth or develop during childhood. Other forms develop during adulthood.

Types of muscular dystrophy

There are more than 30 types of muscular dystrophy. Some of the more common forms include:

Duchenne muscular dystrophy (DMD): This is the most common form of muscular dystrophy. It mainly affects children assigned male at birth (AMAB), but children assigned female at birth (AFAB) can also have a milder version of it. As DMD progresses, it affects your heart and lungs.

Becker muscular dystrophy (BMD): BMD is the second most common type of muscular dystrophy. It mainly affects people AMAB, but people AFAB can have milder symptoms of the condition. Symptoms of BMD can appear any time between the ages of 5 and 60, but they typically begin by your teenage years. The severity of BMD varies from person to person.

Myotonic dystrophy: This is the most common type of muscular dystrophy that’s diagnosed in adulthood. It affects adults AFAB and adults AMAB equally. People with myotonic dystrophy have difficulty relaxing their muscles after using them. The condition can also affect your heart and lungs and cause endocrine issues such as thyroid disease and diabetes.

Congenital muscular dystrophies (CMD): CMD refers to a group of muscular dystrophies that become apparent at or near birth (“congenital” means “present from birth”). CMD causes overall muscle weakness with possible joint stiffness or looseness. Depending on the type, CMD may also involve spinal curvature (scoliosis), breathing issues, intellectual disabilities, learning disabilities, eye issues or seizures.

Distal muscular dystrophy: This type affects the muscles of your hands, feet, lower arms and lower legs. It tends to affect people in their 40s and 60s.

Emery-Dreifuss muscular dystrophy (EDMD): EDMD mainly affects children and young adults AMAB. It tends to cause muscle weakness in your shoulders, upper arms and shins. EDMD also affects your heart. The condition usually progresses slowly.

Facioscapulohumeral muscular dystrophy (FSHD): FSHD most commonly affects muscles in your face, shoulders and upper arms. Symptoms tend to appear before age 20. About 4 out of 100,000 people in the U.S. have this form.

Limb-girdle muscular dystrophy (LGMD): LGMD affects the muscles in your upper arms, upper legs, shoulders and hips. It affects people of all ages. Approximately 2 out of 100,000 people in the U.S. have LGMD.

Oculopharyngeal muscular dystrophy (OPMD): OPMD weakens muscles in your eyelids and throat. Symptoms, such as droopy eyelids (ptosis) and difficulty swallowing (dysphagia), often appear in your 40s or 50s. About 1 in 100,000 people have OPMD.

Symptoms

The symptoms of muscular dystrophy can vary significantly depending on the type. But the main symptom is muscle weakness and other muscle-related issues. Each type can affect different muscles and parts of your body. Symptoms of muscular dystrophy generally get worse over time.

Muscle- and movement-related symptoms can include:

Muscle atrophy.

Difficulty walking, climbing stairs or running.

Irregular walking gait (like waddling or toe walking).

Stiff or loose joints.

Permanent tightening of your muscles, tendons and skin (contractures).

Spasticity.

Muscle pain.

Other symptoms can include:

Fatigue.

Trouble swallowing (dysphagia).

Heart problems, such as arrhythmia and heart failure (cardiomyopathy).

Curved spine (scoliosis).

Breathing issues.

Intellectual disabilities.

Learning disorder.

The symptoms of some types of muscular dystrophy are mild and progress slowly over time as you age. Other types cause more rapid muscle weakness and physical disability.

Causes

Mutations (changes) in the genes that are responsible for healthy muscle structure and function cause muscular dystrophy. The mutations mean that the cells that would normally maintain your muscles can no longer fulfill this role, leading to progressive muscle weakness over time.

There are several genes — and possible genetic mutations — that play a role in muscle function. This is why there are so many different forms of muscular dystrophy.

In the majority of muscular dystrophy cases, the person inherits the genetic mutation from one or both of their biological parents.

There are three ways you can inherit muscular dystrophy, depending on the specific type:

Recessive inheritance: This means you’ve inherited a genetic mutation that causes the condition from both of your biological parents. Some forms of limb-girdle muscular dystrophy have this inheritance.

Dominant inheritance: This means you only need to inherit the mutated gene from one of your biological parents to develop the condition. Myotonic, facioscapulohumeral and oculopharyngeal muscular dystrophies have this type of inheritance.

Sex-linked (X-linked) inheritance: A genetically male person has one X and one Y chromosome, and a genetically female person has two X chromosomes. A genetic mutation on the X chromosome causes a sex-linked condition. As genetically male people only have one copy of each gene on the X chromosome, they’ll develop the condition if one of those genes is mutated. A genetically female person can have X-linked disorders, but the symptoms are usually less severe. Duchenne and Becker muscular dystrophies have this type of inheritance.

In rare cases, a person may develop muscular dystrophy spontaneously, meaning the mutation happened randomly and wasn’t inherited. This is called a de novo mutation.

Diagnosis

If you or your child have symptoms of muscular dystrophy, your healthcare provider will likely perform a physical exam, neurological exam and muscle exam. They’ll ask detailed questions about your symptoms and medical history.

If they suspect you or your child have muscular dystrophy, they may recommend any of the following diagnostic tests:

Creatine kinase blood test: Your muscles release creatine kinase when they’re damaged, so elevated levels may indicate muscular dystrophy.

Genetic tests: Certain genetic tests can identify gene mutations that are linked to muscular dystrophy.

Muscle biopsy: Your provider may take a small sample of your muscle tissue. A specialist will then look at the sample under a microscope to look for signs of muscular dystrophy.

Electromyography (EMG): This test measures the electrical activity of your muscles and nerves.

Treatment

There currently isn’t a cure for muscular dystrophy, though researchers are actively looking for one.

The main goal of treatment is to manage symptoms and improve your quality of life. Treatments can vary depending on the type of muscular dystrophy and may include:

Physical and occupational therapies: The main goal of these therapies is to strengthen and stretch your muscles. They can help you maintain movement function.

Corticosteroids: Corticosteroids, such as prednisolone and deflazacort, may be beneficial for delaying muscle weakness, improving lung function, delaying scoliosis, slowing the progression of cardiomyopathy and prolonging survival.

Mobility aids: Devices such as canes, braces, walkers and wheelchairs can improve your mobility and help prevent falls.

Surgery: People with muscular dystrophy may need surgery to relieve tension on contracted muscles and to correct spine curvature (scoliosis).

Heart care: Early treatment with ACE inhibitors and/or beta-blockers may slow the progression of cardiomyopathy and prevent the onset of heart failure. Pacemakers can also help treat heart rhythm problems and heart failure.

Speech therapy: This can help people who have difficulty swallowing.

Respiratory care: Cough-assist devices and respirators can help with breathing. Tracheostomy and assisted ventilation may be necessary in cases of respiratory failure.

Medications have also been recently developed that may alter the course of certain forms of the disease. Examples include eteplirsen and golodirsen for DMD (Duchenne muscular dystrophy).

Type of Doctor Department :A neurologist with expertise in neuromuscular diseases, A physical medicine and rehabilitation specialist, and physical and occupational therapists

Comments

Post a Comment

Popular posts from this blog

Charge Syndrome

Overview CHARGE syndrome is a recognizable genetic syndrome with known pattern of features. It is an extremely complex syndrome, involving extensive medical and physical difficulties that differ from child to child. CHARGE syndrome is correlated with genetic mutation to CHD7 and the prevalence of CHARGE syndrome is 1:10,000-1:15,000 live births. Babies with CHARGE syndrome are often born with life-threatening birth defects. They spend many months in the hospital and undergo many surgeries and other treatments. Swallowing and breathing problems make life difficult even when they come home. Most have hearing two little girls sitting on a carpet, one girl has a trach and is biting her finger.loss, vision loss, and balance problems that delay their development and communication. Despite these seemingly insurmountable obstacles, children with CHARGE syndrome often far surpass their medical, physical, educational, and social expectations. One of the hidden features of CHARGE syndrome is the ...
7 comments
Read more

Dehydration Due to Diarrheal Diseases

Overview Dehydration occurs when you use or lose more fluid than you take in, and your body doesn't have enough water and other fluids to carry out its normal functions. If you don't replace lost fluids, you will get dehydrated. Anyone may become dehydrated, but the condition is especially dangerous for young children and older adults. The most common cause of dehydration in young children is severe diarrhea and vomiting. Older adults naturally have a lower volume of water in their bodies, and may have conditions or take medications that increase the risk of dehydration. This means that even minor illnesses, such as infections affecting the lungs or bladder, can result in dehydration in older adults. Dehydration also can occur in any age group if you don't drink enough water during hot weather — especially if you are exercising vigorously. You can usually reverse mild to moderate dehydration by drinking more fluids, but severe dehydration needs immediate medical treatment. ...
Post a Comment
Read more

Ataxia with Vitamin E Deficiency

Synonyms of Ataxia with Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Isolated Vitamin E Deficiency General Discussion Ataxia with vitamin E deficiency (AVED) is a rare inherited neurodegenerative disorder characterized by impaired ability to coordinate voluntary movements (ataxia) and disease of the peripheral nervous system (peripheral neuropathy). AVED is a progressive disorder that can affect many different systems of the body (multisystem disorder). Specific symptoms vary from case to case. In addition to neurological symptoms, affected individuals may experience eye abnormalities, disorders affecting the heart muscles (cardiomyopathy), and abnormal curvature of the spine (scoliosis). AVED is extremely similar to a more common disorder known as Friedreich’s ataxia. AVED is inherited as an autosomal recessive trait. Vitamin E deficiency often occurs secondary to disorders that impair the absorption of vitamin E from fat including liver disorders, disorders of fat...
Post a Comment
Read more