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Muscular Dystrophy (MD)

Muscular Dystrophy, commonly abbreviated as MD, comprised more than 30 genetic diseases that affects the muscular system. The incurable condition is more prevalent in males than in females. As a rare disease, there are hardly comprehensive statistics about the number of affected people. However, a common form of the disease identified as Duchenne Muscular Dystrophy (DMD) affects 1 in 3500 male births, according to the National Organization for Rare Disorders (NORD). The National Library of Medicine estimates the average life span of persons with DMD to be 31 years.

Weak or completely dysfunctional hands characterize MD, thus limiting a patient’s ability to carry out daily activities. This limitation is due to reduced muscle mass in the hands, legs, and other parts. Consequently, an affected person has difficulty walking. In extreme cases, such a person may not walk, leaving them dependent on a wheelchair.

What Causes Muscular Dystrophy

MD is a genetic disease in which incorrect and, or absent genetic information hinders the making of specific proteins. These are the proteins required  to build and maintain a healthy muscular system.

Different genetic mutations cause different types of muscular dystrophy and children can inherit faulty genes from either or both of their parents.

The mutation of genes leading to MD can also happen as a new occurrence in a family, not inherited. This type of MD is known as a spontaneous mutation.

Common MD Symptoms

MD may start to manifest in the first few early years of life, with onset occurring in teenage years. Different types of MD start manifesting at different ages, with some starting as early as two years and others as late as 50 years.

The most common signs across all the MD types include:

·       Difficulty in rising from sleeping or sitting positions

·       Stiffness and pain of muscle

·       Curved spine, which is referred to as scoliosis

·       Muscle cramps and frequent falls

·       General delayed growth and learning disabilities

·       Difficulty standing up and poor posture

·       Thinning of bones

·       Walking on toes

Common types of Muscular Dystrophy

According to the National Institute of Child Health and Human Development, NICHD, there are over 30 types of Muscular Dystrophy. 

6 Most Common Types of MD

  • 1

    • Myotonic Dystrophy (DM)

    DM develops late in life, mainly in the 20s and 30s, although it can develop at any age. The US National Library of Medicine approximates that 1 in 8,000 people suffer from DM.  Muscle stiffness and weakness that worsen with time characterize the disease. People with DM experience extended muscle contractions and have difficulty relaxing muscles after using them. There are two types of Myotonic Dystrophy, DM1 and DM2: DM1 progresses rapidly and may result in cardiac and respiratory complications, thus reducing life expectancy.

  • 2

    • Facio Scapulo Humeral Muscular Dystrophy (FSHD)

    FSHD is a dominant genetic disease meaning that there are 50 percent chances of passing the condition’s genetic mutation to children and approximately 800,000 people are living with FSHD worldwide. Progressive weakening of the muscles starting from the face characterizes the disease. The weakening of muscles then progresses downwards to affect shoulders and upper arms. The progression of muscle weakening, and wasting is generally relatively slow, though the severity degree varies among patients.

  • 3

    • Emery-Dreifuss muscular dystrophy (EDMD)

    EDMD affects muscles, joints, and the heart muscles. It causes weaknesses in the upper arms, shoulders, and calves in children. It also affects the electrical system in the heart and may lead to conditions like arrhythmias and conduction defects.

    EMPD symptoms begin to show mildly at the age of about 10. They then progress slowly, and complications of the condition start by adult age. The most common symptoms are stiff joints that cause difficulty walking and weakness of the shoulders and arms. Fluttering heartbeat and fainting could also manifest from the age of 30.

  • 4

    • Oculopharyngeal Muscular Dystrophy (OPMD)

    This type of MD causes the wasting of muscles that control the movement of eyelids and throat, as the name implies. The symptoms of OPMD typically start to manifest in middle age, usually 40-60. Difficulties in swallowing and droopy eyelids present as the initial symptoms of the disease. Eventually, the degeneration of eye muscles may result in difficulty moving of eyes and double vision. The disease can also progress to other muscles, including and not limited to shoulders, pelvic area,  and legs.

  • 5

    • Tibial Muscular Dystrophy (TMD)

    This type of MD results in atrophy and weakness of the ankle, shinbone, or tibia muscles at the lower part of the legs. The first sign of TMD, which primarily manifests after 35, is usually wasting and weakness of Tibialis. The Tibialis anterior is a muscle in the lower leg. Though the muscle weakness in TMD progression is slow, it finally ends with difficulty or complete inability to walk on heels. However, the condition does not cause any significant interference with regular walking.

  • 6

    • Duchenne Muscular Dystrophy (DMD)

    DMD is the most prevalent type of Muscular Dystrophy, affecting 1 in every 3,500 boys born. The incurable condition affects only boys. The girls can only carry the mutated genes and may experience mild disease symptoms. They can also pass it to their sons, who have a 50 percent chance of getting the condition. DMD causes progressive deterioration of muscle fibers. The first symptoms of the disease may begin to show between the ages of 1and 6.

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Managing and Treatment of MD

There is no known cure for any of the over 30 types of Muscular Dystrophy. Different types of MD have varying management interventions, depending on their effects on different patients.

Common and Effective Management Interventions

  • Physical therapy helps in slow down or stop muscles weakness and wasting.
  • Physiotherapy, which helps in the training of fine motor skills functions.
  • Speech therapy for those with affected throat muscles.
  • Respiratory complications interventions like respirators and cough assist devices.
  • Different surgery interventions, mainly to relieve the tension in contracted muscles.
  • Heart surgery and installation of devices like pacemakers for correcting heart problems.
  • Assistive devices like walkers, wheelchairs, and crutches for mobility assistance.
  • Counselling of patients for their psychological wellbeing.

How to Help Persons with MD?

1. Awareness Creation

Muscular Dystrophy is a rare disease, and many people hardly know anything about it. Without adequate information, many people could be suffering in silence, unaware of what is ailing them or their loved ones. Creating awareness about MD will help people know more about the disease, increasing chances of early detection and intervention.

2. Availability and Affordability of Assistive Devices

As a disease that affects the muscles, affected persons may have compromised mobility, leaving them dependent on others. However, with the use of assistive devices such as wheelchairs, such persons can carry out daily activities independently. Thus, there is a need to make related assistive devices available and affordable.

3. Investment in Research

Currently, there is no cure for MD. The best available remedy for persons with the condition is medication to manage the symptoms of the disease. Given that the disease is progressive, affected persons struggle to manage the condition. To improve their quality of life, there is a need to invest in research geared towards a cure or advanced and effective treatment methods to improve the quality of life of affected persons.

Stakeholders should focus such research initiatives at:

  • Gene replacement therapy allows for replacing the responsible gene with a new one that can produce the missing dystrophin protein.
  • Drugs to delay muscle wasting.
  • Stem cell research to assess the possibility of using muscle stem cells to treat MD.
  • Myoblast transplantation replaces worn-out myoblasts, thus enabling the continued repair of faulty muscle fibers.

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