WHAT IS MUSCULAR DYSTROPHY?
Muscular dystrophy is a group of inherited genetic condition, that causes muscle weakness and its loss, progressively. Its symptoms may start at any point of life, which also depends upon the type of muscular dystrophy. Every muscular dystrophy affects different muscles of the body, and most of these are progressive in nature- i.e. the muscle weakness increases with the passage of time. As on the present day, even though there isn’t any treatment for the same, there are various researches which are ongoing across the globe for its cure. But there are various ways like physical therapy, speech therapy, medications, surgeries, assistive devices- that can help to slow down the progression, and reduce the risk of complications.
CAUSES & SYMPTOMS
Muscular dystrophy is a group of inherited genetic condition, that causes muscle weakness and its loss, progressively. Its symptoms may start at any point of life, which also depends upon the type of muscular dystrophy. Every muscular dystrophy affects different muscles of the body, and most of these are progressive in nature- i.e. the muscle weakness increases with the passage of time. As on the present day, even though there isn’t any treatment for the same, there are various researches which are ongoing across the globe for its cure. But there are various ways like physical therapy, speech therapy, medications, surgeries, assistive devices- that can help to slow down the progression, and reduce the risk of complications.
Although the symptoms vary from type to type, its early symptoms begins with
- Abnormal walking
- Difficulty rising from a seated position
- Difficulty in climbing stairs
- Walking on toes
- Frequent falls
- Waddling gait
- Muscle pain and weakness
- Trouble running and jumping
TYPES
Duchenne Muscular Dystrophy (DMD)
Most common and severe form of MD amongst children, primarily boys. It is caused due to lack of dystrophin, a protein, that helps strengthen muscle fibre and protect them from injury. DMD typically occurs at the age of 3 to 5 and progresses rapidly. By the age of 12, children lose their capability to walk, and may need a respirator to breathe.
Becker Muscular Dystrophy
Symptoms similar to that of DMD, though little milder, becker’s MD onsets between 11 to 25 years of age. It also appears primarily in boys.
Myotonic Dystrophy
Myotonic dystrophy, in general, causes an inability to relax the muscles, following a contraction, and can cause swallowing difficulties, drooping eyelids, cataracts and other vision problems, baldness at the front of the scalp in men, weakness of the facial muscles, weight loss, increased sweating, fatigue, infertility, and impotence.
Congenital Muscular Dystrophy
Congenital muscular dystrophy begins early at the age of 2 or earlier. It can affect both boys and girls. Children with this may require support to sit and stand, and may never learn to walk.
Some children with it die in infancy, while others live till adulthood with mild disability.
Facioscapulohumeral Dystrophy (FSHD)
FSHD typically occurs in adults upto age 40. It affects face, shoulders, and upper arms. The condition may also cause curvature in the spine.
Limb-Girdle Muscular Dystrophy (LGMD)
LGMD, which affects both males and females, onsets in adolescence or young adulthood. It can progress quickly or slowly. There are more than 30 types of LGMDs and they are caused due to the different gene mutations. The weakness first occurs in hip muscles, followed by legs, shoulders.
It’s inheritance pattern is either autosomal dominant or autosomal recessive.
- Autosomal dominant inheritance pattern is a pattern, where only one parent needs to transmit the mutated gene for the disease to be inherited. Autosomal dominant disorders typically appear in every generation without skips.
- Autosomal recessive inheritance pattern is a pattern in which both parents need to be carriers of the defective gene for their child to inherit the disease. When a mutation is recessive, it can exist in a person without showing any symptoms so long as their other copy of the same gene is healthy. Autosomal recessive disorders typically appear when there is no known family history of the disorder.
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss Muscular Dystrophy can occur in childhood or adulthood, and can progress slowly or quickly. It causes joint contractures, muscle weakness, and heart problems. It occurs most commonly in males but females who carry a genetic mutation that causes it may have heart conduction defects and muscle weakness.
Distal Muscular Dystrophies
Distal Muscular Dystrophy is the group of disease, that affects distal muscles, i.e. those of forearms, hands, lower legs, and feet. It can occur in both the gender and typically onsets between ages 40 and 60.
It is less severe, and progress slowly than other forms.
Oculopharyngeal Muscular Dystrophy
Oculopharyngeal muscular dystrophy occurs in both men and women, in their 40s or 50s. It can be mild or severe. It may cause drooping eyelids and other vision problems, swallowing problems, and muscle wasting and weakness in the neck, shoulders, and limbs. People may also develop heart problems and lose their ability to walk.
Diagnosis
There are several techniques with which muscular dystrophy can be diagnosed:
- Genetic testing
- Muscle biopsy
- Enzyme assay
- Electromyography
- Lung monitoring (additional evidence)
- Heart monitoring (myotonic muscular dystrophy)
The most recommended diagnostic test remains as genetic testing, as it best confirms the genetic condition. Elevated CPK level provides additional evidence of muscular dystrophy.
Treatment
Currently there is no treatment for muscular dystrophy, but numerous research projects are ongoing, which can potentially convert into treatment:
- Gene therapy
Gene therapy is one, in which the patient receives healthy version of the defective gene.
There are 2 types of gene therapy:
1. Gene transfer therapy
Gene transfer therapy involves delivery of new version of the gene to the target tissues.
2. Gene editing
Gene editing directly modifies the defective gene to fix or bypass a mutation.
- Stem cell research
Researchers are looking at the possibility of inserting muscle stem cells capable of producing the lacking dystrophin protein.
- Drugs
Rather than target the genes behind muscular dystrophy, some researchers are attempting to slow the inevitable muscle wasting.
- Altering muscle production
If the dystrophin gene is being read by protein synthesis machinery and it reaches a mutation, it stops and does not complete the protein. Drugs are being trialed that cause the protein-making equipment to skip the mutated content and still continue to create dystrophin.
- Myoblast Transplantation
During the early stages of muscular dystrophy, myoblasts (also called satellite cells) repair and replace faulty muscle fibers. As the myoblasts become exhausted, the muscles are slowly turned into connective tissue.
Some studies have attempted to insert modified myoblast cells into muscles to take over from the exhausted natural myoblasts.
Care & Management of disease
Despite there isn’t any cure of muscular dystrophy, medications and physical therapy can help to slow down the progression, and keep the patient mobile as long as possible.
Drugs
The two most commonly prescribed drugs for muscular dystrophy are:
Corticosteroids: This type of medication can help increase muscle strength and slow progression, but long-term use can weaken bones and increase weight gain.
Heart medications: If the condition impacts the heart, beta blockers and angiotensin-converting enzyme (ACE) inhibitors may help.
Physical therapy
- General exercises
It includes a set of stretching and strengthening/ motion exercises, yoga, that helps in keeping the muscles mobile and active, and helps in prolonging the progression. Swimming and walking can also help to slow down the progression.
- Breathing assistance
As the muscles used for breathing become weaker, it may be necessary to use devices to help improve oxygen delivery through the night. In the most severe cases, a patient may need to use a ventilator to breathe on their behalf.
- Mobility aids
Canes, wheelchairs, and walkers can help the person stay mobile.
- Braces
These keep muscles and tendons stretched and help slow their shortening. They also give added support to the user when moving.
Diet
Diet is one of the most important factors to be considered by the people with muscular dystrophy.
It has to be ensured that,
- Patients intake a proper diet filled with sufficient protein, vitamins, minerals and other necessary nutrients.
- The diet should be less in fat, and shouldn’t contribute to weight gain, as it adds additional pressure to the muscles of the body.
Mental health
Stress, anxiety, trauma, insomnia are equally injurious to the muscles of the body, and hence its important that a person takes care of his/her mental health too, which can be done by regular meditation, proper diet and enough sleep.
