Muscular Dystrophy (MD) Simplified: Types, Causes, Symptoms and Management

Muscular Dystrophy, commonly abbreviated as MD is a disease that affects the muscular system. Weak or completely dysfunctional hands also limit MD patients’ ability to run day-today-activities. The victims may also have problems talking, breathing, swallowing or heart problems further complicating their daily lives.

What is Muscular Dystrophy?

It causes muscle weaknesses which limits the ability of carrying out day today activities.  This limitation is caused by reduction of muscle mass in hands, legs and other parts. This results to difficulty in walking, or not walking at all which can lead to confinement to a wheelchair.

What Causes Muscular Dystrophy

MD is a genetic disease. Incorrect and, or absent genetic information hinders the making of certain proteins. These are the proteins required for the building and maintenance of a heathy muscular system.

Different types of muscular dystrophy are caused by genetic mutations that are particular to that type. In most cases, MD is inherited thus running in families. Children can inherit faulty genes from either of the parents or both.

The mutation of genes leading to MD can also happen as a new occurrence in a family, not inherited. This type of MD is referred to as 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 2 and others as late as 50. The most common signs across all the MD types include:

·       Difficulty in rising up from sleeping or sitting positions

·       Stiffness and pain of muscle

·       Curvature of spine (abnormal), 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

National Institute of Child Health and Human Development, NICHD, estimates that there are over 30 types of muscular dystrophy. Below are the most common types:

6 Most Common Types of MD

  1. • Myotonic Dystrophy (DM)

    DM develops late in life, mostly 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. The disease is characterized muscle stiffness and weakness which start mildly and progress to worsen with time. Persons living with DM experience muscle contractions that are extended with difficulty in relaxing muscles after using them. There are two types of Myotonic dystrophy; DM1 and DM2. DM1 progresses rapidly and has a much reduced live expectancy as it may result to cardiac and respiratory complications.

  2. • Facio Scapulo Humeral Muscular Dystrophy (FSHD)

    FSHD is characterized by a progressive weakening of the muscles starting from the face. The muscle weakening then progresses downwards to affect shoulders and upper arms. The progression of muscle weakening and wasting is generally fairly slow, though severity degree varies among patients. Facio scapulo humeral muscular dystrophy is a dominant genetic disease. This means that there are 50% chances of passing FSHD genetic mutation to children. There are approximately 800.000 persons living with FSHD worldwide.

  3. • Emery-Dreifuss muscular dystrophy (EDMD)

    EDMD affects muscles, joints, muscles and heart. In children, it causes weaknesses in upper arms, shoulders and calves. In the heart, EDMD affects the electrical system 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 by adult age, complications of the condition start. The most common symptoms are stiff joints that cause difficulty walking and weakness of 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 f the disease. Eventually, the degeneration of eye muscles may result in difficulty in 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 to atrophy and weakness of ankle, shinbone or tibia muscles, the muscles at the lower part of the legs. The first sign of TMD, which mostly manifest after the age of 35 is usually tibialis anterior wasting and weakness. 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 of walking on heels. The condition does not cause any significant interference with regular walking.

  6. • Duchenne Muscular Dystrophy (DMD)

    This is the most prevalent type of muscular dystrophy, affecting 1 in every 3,500 boys born. The condition, which is not curable, affects only boys. The girls can only carry the mutated genes and may experience mild symptoms of the disease. They can also pass it to their sons who will be affected by the condition, a 50% chance. DMD causes progressive deterioration of muscle fibers. The first symptoms of disease may begin to show between the ages of 1and 6.

Managing and Treatment of MD

Currently, there is no known cure for any of over 30 types of muscular dystrophy. Different types of MD have varying management intervention, depending of effects of MD on different patients. Generally, the following are the most common and effective management interventions:

Common and Effective Management Interventions

·       Physical therapy which helps in slowing down or stopping muscles weakness and wasting.

·       Physiotherapy which helps in 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, mostly to relieve the tension in contracted muscles.

·       Heart surgery and installation of devices like pacemakers for correcting heart problems.

·       Asist devices like walkers, wheelchairs and crutches for mobility assistance.

·       Counselling of patients for their psychological wellbeing