Dystonia is a neurological disorder that affects an individual’s movement. Greek for “altered muscle tone,” dystonia causes one’s muscles to involuntarily contract (Moberg-Wolff, Barna, & Thiyagarajah, 2014). Multiple types of the disorder are classified based on the location of the movement dysfunction. It is a possibility that a person can experience multiple types of dystonia simultaneously (“Dystonias Fact Sheet;” Phukan, Albanese, Gasser, & Warner, 2011). Dystonia does not have much specificity in its presentation or cause and can appear at anytime during the lifespan (Geyer & Bressman, 2006). To be diagnosed, a series of assessments must be conducted including blood tests, urine tests, MRI and CT scans, as well as EMG tests to measure …show more content…
Cervical dystonia affects the neck and shoulder area. Symptoms include head twisting which could be painful to the individual. Dystonia could also affect one’s eyes and cause them to become functionally blind due to fast blinking or spasms that cause one’s eyes to shut, called blepharospasms. Oromandibular dystonia involves the jaw muscles and may be painful. This manifests in the inability to close one’s mouth and often cause difficulty with speaking and eating. This type of dystonia is common in accordance with cervical dystonia or belpharospasms. Spasmodic dystonia which is also called laryngeal dystonia, affects the vocal cords may cause a tight or quiet tone of voice. Other types of dystonia are task specific, occurring when the muscle movements occur during a particular action. The most common type is known as writer’s dystonia or writer’s cramp that causes the person’s hands, wrist, and fingers to ache and tightly grasp the writing utensil. This may also involve muscle contractions in the arm. Other task specific dystonias occur in other actions with repetitive actions such as musician’s dystonia or dystonia in professional craftsmen, etc. (Mayo Clinic; Phukan et al., 2011). Dystonic symptoms may increase as time progresses. They may also increase in their severity depending on the individual’s fatigue, stress and anxiety levels (Mayo
Usually once atrophy of the hip musculature is noticed, shoulder weakness in noticed also. Those inflicted with DMD will also have trouble with overhead activates, and keeping the shoulders flexed for long periods of time. Scott M. Giles actually lists the following muscles affected by DMD: “Shoulder girdle musculature, pectorals, deltoids, rectus abdominals, gluteals, hamstrings, and calf muscles” 6. DMD patients continue to lose control and strength in their lower extremity musculature and eventually have so much trouble walking they are confined to a wheelchair. There is not a set age where this occurs, but the average is around twelve years old. The DMD muscles involved in eating, drinking, and of the eye are not touched by the disease. They usually do not have any hearing deficits or stroke disorders 1.
Duchenne Muscular Dystrophy (DMD) is a fatal genetic disorder that is caused by mutations in the gene DMD, which encodes the muscle protein, dystrophin. Dystrophin protein is crucial to preserve the strength, stability, and flexibility of muscle fibers, which protects them from injury as they contract and relax. The DMD gene is primarily located in skeletal and cardiac muscle. Duchenne Muscular Dystrophy is caused by mutations in the gene that produce premature stop codons. The premature stop codons work to bring protein synthesis to a halt, resulting in a greatly shortened and nonfunctional form of dystrophin (Pierce, 2013, pg. 286). According to the Muscular Dystrophy Association (2016), “Individuals with DMD experience rapid progressive
There are often difficulties with diagnosis in DMD because the symptoms may vary and where there is no family history DMD may not at first be suspected. It is quite common to see a delayed walking age with first steps being taken at around eighteen months. Once a boy with DMD is walking he may fall readily. He often has difficulty climbing (stairs for example), difficulty running and jumping, and he may develop a ‘waddling’ gait. Classic symptoms include enlargement (hypertrophy) of the calf muscles, which occurs in about 90% of cases. He may develop a tendency to walk on his toes and this is often accompanied by a protruding abdomen and sway-backed stance, called ‘lordosis’. He may experience difficulty getting up from the floor without help, he may use his hands to climb up his legs for support – this is referred to as ‘Gowers sign’. These symptoms generally begin to
Dystonia usually affects both eyes but does not affect other facial muscles or other parts of the body. Blepharospasm does not cause vision loss or lead to other serious physical problems.
Duchenne Muscular Dystrophy was first discovered in the 1860s by a French neurologist which went by the name of Guillaume Benjamin Amand Duchenne de Boulogne. Guillaume was the first to consider multiple types of muscular atrophy and paralysis which were caused by nerve disorders. He discovered that muscular atrophy was caused by a degeneration of the dorsal columns of the spinal cord. During the 1860s, Duchenne de Boulogne assessed and described the progressive muscle weakness within 13 boys. Using an instrument that Guillaume, himself had developed, he was able to remove portions of tissue found deep within the body which assisted with the discovery of biopsy practices.
Duchenne Muscular Dystrophy (also referred to as DMD) is a type of muscular dystrophy that weakens the muscles that we need to support our body, body weight, to stand, and to move around. It also can cause you to have scoliosis. Some of the main causes for DMD are genetic disorders, mutations, and DMD has to be passed down throughout everyone in that family for generations. The symptoms you can have if you have DMD are weak muscles, lack of strength, and difficulty walking. DMD is a negative mutation because it affects your muscles horribly bad that you can get a disability of walking and even moving. You need to tell your doctor immediately if you experience any symptoms. If you don't tell your doctor, you may find yourself in a very difficult situation where you can't get up or can't get something you need. When you do talk to your doctor, you will have an advantage of getting the help you need.
Myotonic mucular dytrophy- develops slowly and can be caused through genetics. It is the most typical form of muscular dystrophy found in adults beginning to become afflicted. Muscles within the face and neck are the first to contract it. Myotonic MD is associated with difficulty with muscle relaxation following contractions. Commonly known by its nickname "Steinert's Disease".
Myotonic Dystrophy is the most common form of muscular dystrophy. It is a chronic, multi-system disorder that is characterized by progressive muscle wasting and weakness. Symptoms include; myotonia (prolonged muscle contractions), the inability to relax certain muscles after use, slurred speech, temporary locking of jaw, cataracts, abnormalities of the electrical signals that control the heartbeat, and early balding and infertility in men. There are two major types of myotonic dystrophy, type 1 and type 2. Many of the symptoms are overlapping, the only differences are type 1 is generally more severe than type 2 and type 1 affects the lower legs, hands, neck and face. Whereas, type 2 affects the neck, shoulders, elbows, and hips. Myotonic dystrophy
For decades, muscular dystrophy has been associated with Jerry's kids. That is, Jerry Lewis surrounded by children during the annual Muscular Dystrophy Association's Labor Day Telethon. From 1966 to 2010, Jerry Lewis hosted this annual telethon to benefit those with muscular dystrophy. Muscular dystrophy (MD) represents a group of nine inherited muscle disorders. The telethon went on without Lewis from 2010 to 2014, ultimately ending in 2015.
Muscular dystrophy is a rare disease. 349 out of 2.37 million males aged between five and twenty-four had Duchenne or Becker muscular dystrophy in 2007. Males are more likely to be affected. It is very rare for females to have the disease.
What is Muscular Dystrophy, or MD for short. Muscular Dystrophy is a hereditary disease that effects the muscles which controls movement weaken overtime, and in some cases will affect the heart and other organs. Symptoms can show up in those as young as infants and can stay in those in the middle ages or older. There are nine major forms of MD including: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, Emery-Dreifuss. The form and severity vary by the age that MD occurs. Some types of MD will affect mostly males, while some people with MD will enjoy a slow progression with mild symptoms, but on the otherhand, others will experience swift and severe weakening, dying in their late teens and early 20’s. More than 50,000 Americans are affected by various types of MD.
The Impact of DaTscan on the Diagnosis and Management of Movement Disorders: A Retrospective Study.
Along with progressive muscles weakness and muscles destruction possible secondary conditions and complications can occurs. Due to muscular dystrophy and shortening of muscles structures, patient’s mobility can be impaired. Some people will eventually need to use a wheelchair. Additionally, weakened muscles lead to the postural instability resulting in spine curvature disorders. One of the further complications are breathing problems caused by progressive weakness of diaphragm, intercostal and abdominal muscles which are required for proper breathing mechanism. In consequences of those changes patients with muscular dystrophy may eventually need to use a breathing assistance device such as ventilators. In some cases, muscular dystrophy can
Muscular dystrophy (MD) is a rare, progressive disease relating to the weakening of skeletal muscles. There are more than 30 types of muscular dystrophy that are further divided into nine categories. Duchenne MD is the most common and acute form of this condition that accounts for 50% of all the cases. Duchenne MD (DMD) is most prevalent in males, between the ages of 3 and 5 (Norwood, FL, et al. 2009). This X-linked disease occurs for 1 in every 3,500 males, which results in confinement to a wheelchair (Blake et al., 2002). Becker MD (BMD) is a less severe type of this condition. A study conducted in the United Kingdom by Bushby, Thambyayah and Gardner-Medwin, the incidence of Becker MD was estimated to be 1 in 18,450 males at birth
According to Medical News Today, muscular dystrophy is a disorder that is characterized by the progressive loss of muscle mass and consequent loss of strength(Newman). There are specific causes that effect the body, and thus creates certain symptoms that are noticeable initially, and symptoms that occur later on in the process. I will be discussing the causes, symptoms-both initial and later, diagnosis, treatment, and prognosis. In order for one to be classified as having muscular dystrophy, there are certain causes that are very unique to this disorder. First off, though let me say that there are different types of muscular dystrophy, which are: Myotonic, Duchenne, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal,