MDF Magazine Newsletter Issue 55 April 2018

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National First of its kind outside the borders of the United States By Gerda Brown We are happy to announce that on 27 October 2017, the Muscular Dystrophy Foundation of South Africa (MDSA) awarded the status of Global Certified Duchenne Care Center to the Red Cross War Memorial Children’s Hospital in Cape Town. This certification is the first of its kind outside the borders of the United States and confirms that the Duchenne-specific patient care and services provided at this centre are provided in agreement with international standards. To retain the certification, the Red Cross Hospital must satisfy the MDSA that the agreed level of care is being maintained. We are hopeful that, with this recognition, South Africa will now have access to early therapeutic interventions as part of Duchenne clinical trials. In the past, South African clinics were not considered viable due to the perception that we had limited resources. During August and September 2016 the Muscular Dystrophy Foundation was fortunate in hosting representatives from Parent Project Muscular Dystrophy (a Duchenne-specific organisation based in the United States) to present lectures about Duchenne muscular dystrophy to our South African families and clinicians. Parent Project Muscular Dystrophy (PPMD) is recognised around the world as the leader in the Duchenne community. Because of their efforts, families affected by Duchenne have better access to state-of-the-art care information and research. This visit led to the neuromuscular service, based at Red Cross War Memorial Children’s Hospital, to apply for certification by the PPMD as a Certified Duchenne Care Center. Muscular dystrophy (MD) is the name given to a group of more than 70 different neuromuscular disorders causing progressive wasting and weakness of the muscles. Each type presents differently and with its own levels of complexity. The prognosis varies according to the type of MD and the speed of progression. Some types are mild and progress very slowly, allowing normal life expectancy, while others are more severe and result in functional disability and loss of the ability to walk. The disorders are usually inherited, with the defective gene being passed on from one generation to the next. However, MD can also occur in families where there is no prior history of the condition. Duchenne muscular dystrophy (Duchenne) is the most serious neuromuscular genetic disorder diagnosed in childhood. Because the Duchenne gene is found on the X-chromosome, it primarily affects boys. Duchenne results in progressive loss of strength and is caused by a mutation in the gene that encodes for dystrophin. Because dystrophin is absent, the muscles gradually break down. The progressive muscle weakness leads to serious medical problems, particularly issues relating to the heart and lungs. Young men with Duchenne typically lose the ability to walk between the ages of 10 and 14 years and live only into their late twenties. About the Muscular Dystrophy Foundation of South Africa (www.mdsa.org.za) The Muscular Dystrophy Foundation of South Africa is a registered non-profit organisation consisting of a National Office and three branches which operate in the nine provinces of South Africa. The Foundation was founded in 1974 by Mr and Mrs Walker, who at the time had a son affected with Duchenne Muscular Dystrophy. The Foundation was established with the aim of reaching out to other parents and families in a similar situation and to support research into this disease with the ultimate goal of finding a cure. About the Global Certified Duchenne Care Center Program Created by Parent Project Muscular Dystrophy (PPMD) in the US, the Global Certified Duchenne Care Center (CDCC) Program offers a path forward for global neuromuscular patient advocacy groups to certify Duchenne Care Centers within their own countries. Patient advocacy groups, operating within their own country and under the guidance of Parent Project Muscular Dystrophy’s Certified Duchenne Care Center Program, grant certification to local Duchenne Care Centers that meet the high standards set forth by this program. Learn more online at EndDuchenne.org/CareCenters. 6
Friedreich’s Ataxia MD What is Friedreich's ataxia? Friedreich's ataxia (also called FA or FRDA) is a rare inherited disease that causes nervous system damage and movement problems. It usually begins in childhood and leads to impaired muscle coordination (ataxia) that worsens over time. The disorder is named after Nicholaus Friedreich, a German doctor who first described the condition in the 1860s. In Friedreich’s ataxia the spinal cord and peripheral nerves degenerate, becoming thinner. The cerebellum, part of the brain that coordinates balance and movement, also degenerates to a lesser extent. This damage results in awkward, unsteady movements and impaired sensory functions. The disorder also causes problems in the heart and spine, and some people with the condition develop diabetes. The disorder does not affect thinking and reasoning abilities (cognitive functions). Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia. Both male and female children can inherit the disorder. What are the signs and symptoms? By the US National Institute of Neurological Disorders and Stroke Most individuals with Friedreich’s ataxia tire very easily and find that they require more rest and take a longer time to recover from common illnesses such as colds and flu. The rate of progression varies from person to person. Generally, within 10 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease individuals may become completely incapacitated. Friedreich's ataxia can shorten life expectancy, and heart disease is the most common cause of death. However, some people with less severe features of Friedreich's ataxia live into their sixties, seventies, or older. How is Friedreich's ataxia diagnosed? A diagnosis of Friedreich's ataxia requires a careful clinical examination, which includes a medical history and a thorough physical exam, in particular looking for balance difficulty, loss of proprioception (joint sensation), absence of reflexes, and signs of neurological problems. Genetic testing now provides a conclusive diagnosis. Other tests that may aid in the diagnosis or management of the disorder include: Symptoms typically begin between the ages of 5 and 15 years, although they sometimes appear in adulthood and on rare occasions as late as age 75. The first symptom to appear is usually gait ataxia, or difficulty walking. The ataxia gradually worsens and slowly spreads to the arms and the trunk. There is often loss of sensation in the extremities, which may spread to other parts of the body. Other features include loss of tendon reflexes, especially in the knees and ankles. Most people with Friedreich's ataxia develop scoliosis (a curving of the spine to one side), which often requires surgical intervention for treatment. Dysarthria (slowness and slurring of speech) develops and can get progressively worse. Many individuals with later stages of Friedreich’s ataxia develop hearing and vision loss. Other symptoms that may occur include chest pain, shortness of breath, and heart palpitations. These symptoms are the result of various forms of heart disease that often accompany Friedreich's ataxia, such as hypertrophic cardiomyopathy (enlargement of the heart), myocardial fibrosis (formation of fiber-like material in the muscles of the heart), and cardiac failure. Heart rhythm abnormalities such as tachycardia (fast heart rate) and heart block (impaired conduction of cardiac impulses within the heart) are also common. About 20 percent of people with Friedreich's ataxia develop carbohydrate intolerance and 10 percent develop diabetes. • electromyogram (EMG), which measures the electrical activity of muscle cells, • nerve conduction studies, which measure the speed with which nerves transmit impulses, • electrocardiogram (ECG), which gives a graphic presentation of the electrical activity or beat pattern of the heart, • echocardiogram, which records the position and motion of the heart muscle, • blood tests to check for elevated glucose levels and vitamin E levels, and • magnetic resonance imaging (MRI) or computed tomography (CT) scans, tests which provide brain and spinal cord images that are useful for ruling out other neurological conditions. How is Friedreich's ataxia inherited? Friedreich's ataxia is an autosomal recessive disease, meaning individuals only develop symptoms if they inherit two copies of the defective FXN gene, one from their father and one from their mother. A person who has only one abnormal copy of the gene is called a carrier. A carrier will not develop the disease but could pass the gene mutation on to his or her children. If both parents are carriers, their children will have a 1 in 4 chance of having the disease and a 1 in 2 chance of inheriting one abnormal gene that they, in turn, could pass on to their children. About one in 90 Americans of European ancestry carries an abnormal FXN gene. 7
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MDF Magazine Newsletter Issue 55 April 2018

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