Spinal Muscular Atrophy

Decent Essays
It is a group of inherited disorders that cause progressive muscle degeneration and weakness. Spinal muscular atrophy (SMA) is the second leading cause of neuromuscular disease. It is usually inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected). Three types of SMA affect children before age one year. Type 0 is the most severe form of spinal muscular atrophy and begins before birth. Usually, the first symptom of type 0 is less movement of the baby that is first seen between 30 and 36 weeks of the pregnancy. After birth, these newborns have little movement and have difficulties with swallowing and breathing. Type I spinal muscular atrophy (called Werdnig-Hoffman disease) is another

Related Documents

  • Improved Essays

    Nt1310 Unit 1 Assignment

    • 449 Words
    • 2 Pages

    My choice for a genetic disorder is Spinal Muscular Atrophy also known as SMA. SMA is an inherited or genetic disorder that affects spinal motor neurons. Without these properly functioning neurons, patients have increased muscle weakness. In some severe cases patients will lose the ability to breath or swallow on their own. According to the National Human Genome Research Center, 1 in 6,000 to 1 in 10,000 people are affected by SMA.…

    • 449 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    ALS affects the muscles in the body and eventually the…

    • 1809 Words
    • 8 Pages
    Improved Essays
  • Decent Essays

    Duchenne muscular dystrophy is progressive disease of the muscle, caused by defective or absent glycoprotein, dystrophin, in the membrane of the muscle wall. Dystrophin reinforces the myotube membrane skeleton by increasing its stiffness, thus a lack of dystrophin causes substantial reduction in muscle stiffness. Symptoms include ambulation difficulties, hyperopia and gross motor milestone delays in infants and children, calf hypertrophy, an imbalance in lower limb strength, and diminished muscle tone. It occurs in 1 in 3,500 newborn boys and 1 in 50 million newborn girls. It is caused by a mutation on the X chromosome at the Xp21 position (2 third of these are inherited and 1 third is due to spontaneous mutation), and as such affects a higher…

    • 276 Words
    • 2 Pages
    Decent Essays
  • Improved Essays

    Side effects: 1-Neuromuscular Manifestations: Neuromuscular symptoms are the most common presenting problem of hypermagnesaemia and magnesium intoxication. Magnesium prevents the release of pre-synaptic acetylcholine from both sympathetic and neuromuscular junctions.(93)Hypermagnesaemia causes blockage of neuromuscular transmission and depresses the conduction system of the heart and the sympathetic ganglia. Clinically, one of the earliest effects of magnesium intoxication is the disappearance of deep tendon reflexes. This is often seen at magnesium concentrations…

    • 379 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    DOI: 10/19/1986. The patient is a 77-year old male driver/transporter who sustained injury to his low back while he was carrying 70-75 pounds money upstairs. Office notes dated 04/22/2016 revealed that the patient complained of chronic back pain with spinal stenosis. He has been managing with oral medications which include hydrocodone/APAP, ibuprofen, wherein these medications seem to keep things under control. Office Notes dated 05/23/2016 revealed that the patient has a history of spinal problems with spinal stenosis.…

    • 301 Words
    • 2 Pages
    Decent Essays
  • Superior Essays

    Cases: 1. A 13-year-old male presents with a two-year history of progressive weaknesses in both upper and lower extremities. He finds it difficult to lift heavy objects off a shelf. When sitting on the floor he has to hold onto objects such as a chair to pull himself up. On examination, there is significant wasting of muscles in the shoulders, upper arms, and hips.…

    • 1545 Words
    • 6 Pages
    Superior Essays
  • Decent Essays

    Neurofibromatosis The genetic disorder I chose is called Neurofibromatosis. There are three types of Neurofibromatosis: Type 1 (von Recklinghaus disease, peripheral NF, Recklinghausen neurofibromatosis), Type 2 (bilateral acoustic NF, central NF or vestibular NF), and schwannomatosis. Schwannomatosis used to be considered a variation of neurofibromatosis type 2 but is now recognized as different from neurofibromatosis type 2.…

    • 695 Words
    • 3 Pages
    Decent Essays
  • Superior Essays

    Duchenne’s muscular dystrophy Duchenne’s Muscular Dystrophy Zachary Uecker Genetic Disease Abstract Duchenne’s muscular dystrophy is a genetic disease that targets skeletal muscles and over time, the muscles lose protein and are replaced by fats and connective tissue, making the skeletal muscles unusable. In this paper, the parts of Duchenne’s that will be covered are the method of transmission, statistics about Duchenne’s in the population, the pathophysiology, the body systems effected, signs and symptoms, age of onset, treatment/therapy options, psychological factors, prognosis, prevention techniques, ethical considerations, and how genetic counseling may be utilized for patients.…

    • 1182 Words
    • 5 Pages
    Superior Essays
  • Improved Essays

    Kennedy's Disease

    • 411 Words
    • 2 Pages

    Kennedy’s disease has many other designations that are used for this disorder, but the most common are X-linked Spinal and Bulbar Muscular Atrophy, X-linked Spinal Bulbar Muscular Atrophy, or SBMA (Kennedy's Disease Association, 2015). SBMA is a rare disorder because it affects one in 150,000 individuals…

    • 411 Words
    • 2 Pages
    Improved Essays
  • Decent Essays

    Paralysis In The Muscle

    • 368 Words
    • 2 Pages

    There has been many medication or drugs out there that have been beneficial or even harmful to the average American person. In addition to that it can be very cost effective but if I was giving the chance to create a drug that could cause paralysis in the muscle, the three control points that I would target would be the nervous system, neuromuscular blocker, and a disruption to the acetylcholine synthesis I will further explain these key points. Paralysis is a form of having no movement of the limbs there are many different forms of paralysis when it pertain to the body it can come in many stages. If I was to create a drug that would cause this disorder I would prevent the communication to the sensory nerves and the central nervous symptoms,…

    • 368 Words
    • 2 Pages
    Decent Essays
  • Decent Essays

    Therapeutic practices in the neonatal intensive care unit (NICU) are often incorporated to foster the emergence of motor skills along a developmental trajectory. However, many of the interventions used to optimize musculoskeletal alignment are static in nature and, therefore, restrict the expression of spontaneously generated movements. As a variety of movement patterns are essential for proper musculoskeletal modeling, restriction of spontaneously generated movements can impact how bones and soft-tissue structures develop and can lead to the development of secondary impairments that may impact a child’s long-term function. A dynamic alternative exists, as elastic therapeutic tape (ETT) has the unique potential to support skeletal alignment…

    • 213 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Multiple System Atrophy

    • 279 Words
    • 2 Pages

    INTRODUCTION Multiple system atrophy (MSA) is characterized by a combination of parkinsonism, cerebellar ataxia, autonomic dysfunction and corticospinal tract impairment [1]. There are two subtypes of MSA according to the dominant clinical features; MSA-P presenting parkinsonism and MSA-C presenting cerebellar symptoms. The cardinal features of MSA-C are common to hereditary spinocerebellar ataxia (SCA), which demonstrates variable onset ages and a slower progression. Indeed, considerable proportions of patients initially diagnosed as SCA later turned out to be MSA-C [2]. Because the initial symptoms and signs of both conditions resembles, biomarkers useful for differentiating these two diseases have been explored for many years.…

    • 279 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Type 4 is less common than any of the other types. Type 4 symptoms included, twitching and muscle weakness. This form is also known as Adult Onset Spinal Muscular Atrophy,and is considered a rare disorder. Symptoms of this type not only include twitching and weakness it also includes, wasting away of muscles typically only the muscles close to the centre of the body, like the upper arms and legs. Also muscle aches and joint overuse symptoms are very well known with this…

    • 1117 Words
    • 5 Pages
    Improved Essays
  • Decent Essays

    Musculoskeletal Disorders

    • 177 Words
    • 1 Pages

    Musculoskeletal disorders (MSDs) affect the nerves, tendons, blood vessels, ligaments and muscles. Musculoskeletal disorders (MSDs) are the most prevalent and expensive problem of all work related injuries proved by clear and consistent evidence. These injuries have positive association with occupational factors, and have highest frequency in workers. Workers in different occupations can be exposed to various risk factors during their working task, such as pushing and pulling heavy loads, working in bending or awkward body posture for long duration, working on similar task repetitively. Exposure to these various working conditions increases the risk of MSDs.…

    • 177 Words
    • 1 Pages
    Decent Essays
  • Improved Essays

    Asperger's Syndrome Essay

    • 1736 Words
    • 7 Pages

    Symptoms of the disorder are obvious from infancy. Unlike most children eight to ten month old,…

    • 1736 Words
    • 7 Pages
    Improved Essays