The developmental condition that I thought would be the most beneficial to learn to enhance my chiropractic career is muscular dystrophy.
Muscular dystrophy is categorized as rare genetic diseases, that displays numerous symptoms, however, the main apparent symptom is loss of muscle function (Do et al. 2018). The abnormality that appears with muscular dystrophy is that abnormal genes interrupt the production of protein affecting the natural process that is essential to developing healthy functional muscle (Mayoclinic, n.d.).
The several types of muscular dystrophies are unique targeting different muscle groups, while having its own set of genetic mutations that occurs at different ages (Do et al. 2018). Muscular dystrophies are categorized into Duchenne, Becker, Myotonic, Facioscapulohumeral, Congenital, and Limb-girdle muscular dystrophy. Due to several types of muscular dystrophy, various signs and symptoms arise. However, in the most common forms of muscular dystrophy the disease targets specifically boys in their childhood, while unique cases are not diagnosed until later in an individual’s life (Mayoclinic, n.d.).
An individual diagnosed with a type of muscular dystrophy would experience, frequent falls, difficulty rising from a lying or sitting position, difficulties running and jumping, waddling gait, walking on toes, large calf muscles, muscle pain and stiffness, learning disabilities, and finally delayed growth due to feeding and respiratory insufficiency (Mayoclinic, n.d.). Albeit, normal symptoms are commonly seen there are other rare symptoms individuals may experience such as microcephaly, eye anomalies, and cerebral malformation (Mah et al. 2015).
The rate of occurrence of this unique disease in the United States varies as a result of the severity and rareness of different muscular dystrophies. As stated above, the most common forms of muscular dystrophy produce rates of approximately 1 in every 5,600 – 7,700 males spanning from 5-24 (Centers for Disease Control and Prevention, 2009). Moreover, myotonic muscular dystrophy identified by researchers and doctors as the most common form occurring in adults produces occurrence rates of 1 in every 8,000s individuals across the world (Myotonic Dystrophy Foundation). When it comes to racial and ethnic groups specifically in the United States muscular dystrophy has been shown that the disease has the lowest amount of occurrences in Non-Hispanic Blacks while Hispanics and Non-Hispanic Whites were much more susceptible from acquiring a type of muscular dystrophy (CDC, 2019).
This array of disease are hereditary deteriorating disorders producing severe complications targeting individuals muscles (Mah et al. 2015). This diseases is acquired through genetics through three different occurrences being autosomal dominant, autosomal recessive, or X-linked traits as well as rare incidences may appear at birth as a defect (Mah et al. 2015). Going into more detail, myotonic dystrophy the most common form acquired by adults may show symptoms such as myotonia, deteriorating muscular weakness, irregular heartbeat and endocrine dysfunction (Mah et al. 2015). To classify this developmental abnormality, the classification system is based on molecular genetic testing categorizing muscular dystrophy into 2 different types. Type 1 is identified by abnormal additions of repeating trinucleotide chromosomes, while Type 2 tetranucleotide chromosome are added on as an addition to another unique chromosome to designating itself to be type 2 (Mah et al. 2015). Type 1 can be further be divided making up other subgroups based off of the time the individual was diagnosed with the disease (Mah et al. 2015). Contrary to myotonic dystrophy which is the result of additional chromosomes, facioscapulohumeral dystrophy is diagnosed when an individual has a reduced number of chromosomes. And finally, congenital dystrophy is diagnosed when the individual acquires the disease early on in their life (Mah et al. 2015). Individuals who are diagnosed early on in life experience symptoms that occur during the first 6 months that have an array of effects on the body such as reduced muscle tone, muscle weakness and decreased deep tendon reflexes (Mah et al. 2015).
Muscular dystrophy affect various systems affecting those diagnosed differently. It has a various array of symptoms such deformed or rigid joints, overall weakness due to muscle loss, difficulties swallowing, and pulmonary insufficiency increasing mortality rates from an infant from birth to 1 month (Mah et al. 2015). Moving onto facioscapulohumeral dystrophy, individuals who are diagnosed with the genetic disease show symptoms of extreme weakness, along with defects to the central nervous system that results in mental retardation, epilepsy, retinal vasculopathy, and sensorineural hearing loss, while limb-girdle muscular dystrophy is a diverse group that also includes gradual muscle weakness that affects the hip and shoulder regions of the body (Mah et al. 2015). Although muscular dystrophy can affect several body tissues and organs as stated above, the main system affected by this rare disease is that it targets the normal development of muscle fibers (NIH, 2020). Destruction of an individual’s muscle fibers results in abnormal muscle growth, inability to grow the basic units of muscle fibers (epimysium, perimysium, endomysium), and decreased length on the muscles and tendons (NIH, 2020). As a byproduct from these degenerative effects the strength of the tendons and muscles are significantly reduced (NIH, 2020).
Muscles are made up of an abundance of muscle fibers. Each fiber is several individual cells that have joined together during development known as endomysium and are encased by an outer membrane known as perimysium. These muscle fibers that make up individual muscles are held together and are enclosed by dense irregular connective tissue called epimysium. To fire muscles it requires a process called an action potential. This process occurs by a signal being transmitted from the region of the brain to the spinal chord (NIH, 2020). Once the signal reaches the spinal chord it is sent out on through the ventrally located peripheral spinal nerves and are transmitted to the neuromuscular junction (NIH, 2020). At the neuromuscular junction, a chemical is released called acetylcholine which binds to receptors at the motor endplate and triggers an action potential causing the muscle to contract. The membrane of muscle fibers embodies a specific group of proteins named dystrophin glycoprotein complex (NIH, 2020). These proteins prohibit inhibit impairment of the muscle fibers while they are in the activated and relaxed state (NIH, 2020). However, if the membrane is degraded or affected these muscle fibers begin to discharge a protein called creatine kinase, necessary for providing adequate energy for muscle activation (NIH, 2020). As a result, acquire calcium causing significant damage to the muscle fibers resulting in reduced quality of the muscle inhibiting proper muscle function (NIH, 2020).
Research advocates that this rare genetic disease is genetic and there is no medical prevention besides screening during pregnancy. Albeit, a cure has not been found treatment plans have been devised to increase the individuals quality of life minimizing the substantial effects associated with this condition (NIH, 2020). Treatment could range anywhere from physical therapy, drug therapy, and surgery, however, as chiropractors we are musculoskeletal experts and try to avoid the last two options. There is room for chiropractic and other alternative support, sometimes has even been shown to be quite effective and can have a significant impact on life expectancy and quality of life. I do believe there is room for chiropractic care as we are musculoskeletal experts and we can certainly help people with muscular dystrophy avoid getting addicted and hooked onto opioids which is a major problem in our society today. As chiropractors, we could improve individuals’ biomechanics, posture, and body awareness which would be very beneficial to an individual suffering from this particular disease. This topic interests me personally because I am very interested in biomechanics and how different diseases affect optimal movement patterns. I have always been interested in rehabilitation exercises and helping treat diseases that affect muscles and mainly I asked a bunch of chiropractors who own their practices what would be the most beneficial developmental abnormality to learn and they all said muscular dystrophy.