MDF Magazine Issue 53 August 2017

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National Muscular Dystrophy Emergency Cards By Gerda Brown The Muscular Dystrophy Foundation of South Africa has developed emergency cards for specific types of muscular dystrophy. These cards will allow people with muscular dystrophy and their families to easily inform non-specialist emergency health care professionals of vital and specific medical issues affecting persons with these conditions. The emergency cards are shaped to fit easily inside a wallet or purse, and it is recommended that they always be carried on your person. Cards are available for the following conditions: • Spinal muscular atrophy type I • Spinal muscular atrophy type II • Spinal muscular atrophy type III • Myotonic dystrophy types I and II • Limb-girdle muscular dystrophy • Facioscapulohumeral muscular dystrophy • Congenital muscular dystrophy • Duchenne muscular dystrophy • Becker muscular dystrophy • Charcot-Marie-Tooth disease You will find your specific card enclosed in the MDF Magazine. If you did not receive your card, your specific type of muscular dystrophy was not clear. Please contact the National Office at 011 472-9703 or gmnational@mdsa.org.za to request the appropriate card. Interviews on Radio Sonder Grense (RSG) By Gerda Brown Muscular dystrophy is a physically destructive disease. However, various assistive devices, support aids, surgery, physiotherapy, etc can assist in overcoming challenges with regard to mobility. It is the psychological and emotional responses to the disability that are often left unaddressed. Disability affects everyone differently but also the same. I’m sure most of you have felt anxious about the future – “how long will I still walk?”; unsettled about visiting unknown places – “will it be accessible?”; had an off day and asked “why me”?; felt totally alone and isolated because there was no-one to identify with; felt frustrated and angry at having to rely on other people; and didn’t feel as confident in social situations. As if all these internal feelings aren’t enough, they are often confirmed by the behaviour of the public. Because public knowledge of muscular dystrophy is limited, attitudes towards people with muscular dystrophy are sometimes based on ignorance and can cause humiliation. Some might even believe that people with muscular dystrophy could do more if they just tried harder, or that they pretend to be unable to do something because they just don’t want to, and that if they were just to exercise more they would become stronger. When people are properly informed about MD, their attitudes and behaviour towards affected people become more reasonable and sensitive; thus, discussing muscular dystrophy increases understanding and tolerance. 6 This helps to minimise the psychological stress that sufferers might otherwise experience when interacting with others. One of the roles of the Muscular Dystrophy Foundation of South Africa is to create public awareness about disability and muscular dystrophy specifically. Gerda Brown and Suretha Erasmus were invited for interviews by Radio Sonder Grense on 18 and 23 May 2017. The focus of the first interview was to raise awareness about muscular dystrophy in general and the second to introduce the Foundation. As a result of these talks two second-hand electric wheelchairs were donated and Gerda was invited to also do an awareness talk at another not-for-profit organisation. A big thank you to Sue Pyler and Ettienne Ludick from RSG for inviting us to be part of their show.
National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov/Disorders/Patient- Caregiver-Education/Fact-Sheets/Charcot-Marie-Tooth-Disease-Fact-Sheet MD Charcot-Marie-Tooth Disease Pain can range from mild to severe, and some people may need to rely on foot or leg braces or other orthopedic devices to maintain mobility. Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy. What is Charcot-Marie-Tooth disease? Charcot-Marie-Tooth disease (CMT) is one of the most common inherited neurological disorders. The disease is named for the three physicians who first identified it in 1886 – Jean- Martin Charcot and Pierre Marie in Paris, France, and Howard Henry Tooth in Cambridge, England. CMT, also known as hereditary motor and sensory neuropathy (HMSN) or peroneal muscular atrophy, comprises a group of disorders that affect peripheral nerves. The peripheral nerves lie outside the brain and spinal cord and supply the muscles and sensory organs in the limbs. Disorders that affect the peripheral nerves are called peripheral neuropathies. What are the symptoms of Charcot-Marie- Tooth disease? The neuropathy of CMT affects both motor and sensory nerves. (Motor nerves cause muscles to contract and control voluntary muscle activity such as speaking, walking, breathing, and swallowing.) A typical feature includes weakness of the foot and lower leg muscles, which may result in foot drop and a high-stepped gait with frequent tripping or falls. Foot deformities, such as high arches and hammertoes (a condition in which the middle joint of a toe bends upwards) are also characteristic due to weakness of the small muscles in the feet. In addition, the lower legs may take on an "inverted champagne bottle" appearance due to the loss of muscle bulk. Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue). Onset of symptoms is most often in adolescence or early adulthood, but some individuals develop symptoms in midadulthood. The severity of symptoms varies greatly among individuals and even among family members with the disease. Progression of symptoms is gradual. What causes Charcot-Marie-Tooth disease? A nerve cell communicates information to distant targets by sending electrical signals down a long, thin part of the cell called the axon. In order to increase the speed at which these electrical signals travel, the axon is insulated by myelin, which is produced by another type of cell called the Schwann cell. Myelin twists around the axon like a jelly-roll cake and prevents the loss of electrical signals. Without an intact axon and myelin sheath, peripheral nerve cells are unable to activate target muscles or relay sensory information from the limbs back to the brain. CMT is caused by mutations in genes that produce proteins involved in the structure and function of either the peripheral nerve axon or the myelin sheath. Although different proteins are abnormal in different forms of CMT disease, all of the mutations affect the normal function of the peripheral nerves. Consequently, these nerves slowly degenerate and lose the ability to communicate with their distant targets. The degeneration of motor nerves results in muscle weakness and atrophy in the extremities (arms, legs, hands, or feet), and in some cases the degeneration of sensory nerves results in a reduced ability to feel heat, cold, and pain. The gene mutations in CMT disease are usually inherited. Each of us normally possesses two copies of every gene, one inherited from each parent. Some forms of CMT are inherited in an autosomal dominant fashion, which means that only one copy of the abnormal gene is needed to cause the disease. Other forms of CMT are inherited in an autosomal recessive fashion, which means that both copies of the abnormal gene must be present to cause the disease. Still other forms of CMT are inherited in an X-linked fashion, which means that the abnormal gene is located on the X chromosome. The X and Y chromosomes determine an individual's sex. Individuals with two X chromosomes are female and individuals with one X and one Y chromosome are male. In rare cases the gene mutation causing CMT disease is a new mutation which occurs spontaneously in the individual's genetic material and has not been passed down through the family. What are the types of Charcot-Marie-Tooth disease? There are many forms of CMT disease, including CMT1, CMT2, CMT3, CMT4, and CMTX. CMT1, caused by abnormalities in the myelin sheath, has three main types. CMT1A is an autosomal dominant disease that results from 7
Page 1 and 2: Spring Issue 53 August 2017 R25.00
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Page 9 and 10: MD Individuals with CMT1 typically
Page 11 and 12: EMERGENCY ALERT CARDS Muscular Dyst
Page 13 and 14: Health Limb-girdle muscular dystrop
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Page 21 and 22: Molly, my life-changing dog People
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Page 33 and 34: Craft Day for Children with Duchenn
Page 35 and 36: Gauteng Branch Welcome Beauty Matim
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MDF Magazine Issue 53 August 2017

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