7--8 Orofacial function of persons having Duchenne muscular dystrophy Report from questionnaires The survey comprises questionnaires. Estimated occurrence: : inhabitants. Only affects boys Etiology: A shortage of the protein dystrophin, which stabilizes muscle fibers. This lack of dystrophin results in deterioration of muscular fiber. Duchenne muscular dystrophy is an X- linked inherited disorder. Female carriers have no symptoms. One-third of all cases are spontaneous mutations. General symptoms: Symptoms normally present around the age of three. The child develops a waddling gait, has difficulty running, jumping and getting up off the floor. The thoracic girdle, the pelvic and the musculature of the back all become progressively weak. Upper arms and thighs are affected earlier than lower arms and calves. Curvature of the lumbar region develops. These boys generally stop being able to walk around the age of to. Impaired cardiac function often develops. Muscular weakness increases over the years. Many individuals develop contractures and scoliosis. The respiratory musculature is weakened, and lung function reduced. Malignant hyperthermia has been reported and should be considered when treatment under general anesthesia. There may be concentration problems and learning disability. Orofacial/odontological symptoms: Weakness of the main muscles used for chewing, the facial muscles and the tongue. Malocclusions develop successively owing to muscular weakness and, in some cases, the changed morphology of the tongue (enlarged tongue due to muscular atrophy). The jaws increase in width, more in the lower jaw than in the upper, which often results in a posterior cross-bite. Later a lateral open bite may appear and later on a frontal open bite can be seen. Reduced muscular strength and endurance of the chewing muscles in combination with lack of occlusal (bite) contact may result in difficulties masticating food. In late stages of the disease, swallowing difficulties often develop. The mouth opening capacity can be reduced. Orofacial/odontological treatment: Problems in managing oral hygiene and eating difficulties justify extra preventive dental care. Co-operation with a dental hygienist and an occupational therapist is recommended. It is important to bear in mind in relation to dental treatment, that individuals with cardiac and respiratory difficulties have trouble sitting in a reclining position Stretching of the jaw opening is required if the jaw opening capacity is reduced. When treating medically compromised patients always contact their doctors for medical advice (bleeding problems, heart diseases etc.). There is an increased risk of malignant hyperthermia during general anaesthesia. Eating and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment centre. Source: The rare disease base of the Swedish National Board of Health and Welfare. The MHC base - The Mun-H-Center base on oral health and orofacial function in Sida av 7
7--8 Age distribution 6 4 9 5-6 7-9 - - 5 6-9 - 9-9 4-49 5 - F M : Ages: - 44 Sex: M () F () Additional diagnoses Medical impairment Inborn heart defect 55 Other cardiovascular disease 7 48 4 Epilepsy 58 Asthma 4 5 Need of respiratory support 8 5 Allergy 47 Neuropsychiatric diagnosis ADHD/ADD 48 Autistic syndrome 5 5 4 Autistic traits 6 5 Asperger s syndrome 56 Tourette s syndrome 58 General disability Intellectual disability 6 46 7 Mobility dysfunction 6 Impaired vision 6 5 Impaired hearing 57 Difficulty in communicating 7 4 Sida av 7
7--8 About dental care and oral health Do you feel that you receive the dental care you need?, very much so, some what, not really, not at all 4 6 How many times per year do you normally seek dental care? Three or more times per year Twice per year Once per year Less than once per year 9 5 When were your teeth last X-rayed? During the past two years More than two years ago Never had my teeth X-rayed 4 4 Sida av 7
7--8 Do you look after your teeth in a good way?, very much so, some what, not really, not at all 5 Who brushes your teeth? I always brush myself Sometimes I brush myself Someone else always helps me 8 4 6 How often are your teeth brushed? Three or more times per day Twice per day Once per day t every day 47 8 Sida 4 av 7
7--8 About dental care and oral health Does your mouth hurt? Does your mouth feel dry? Have you ever taken a serious hit to your permanent front teeth? Do you feel that you have a divergent bite? Have you had a brace? Do you feel that you need orthodontics/a brace? 8 49 5 4 9 48 6 4 5 4 6 Do you grind or press your teeth at night? Never Once or twice per week Every night 5 7 Do you grind or press your teeth during the day? Never Once or twice per week Every day 56 Sida 5 av 7
7--8 About eating Do you have any problems with eating? 49% % % %, very much so, some what, not really 6, not at all 9 7% Do you cough daily in connection with meals? Do you gag daily in connection with meals? Do you get acid reflux daily? Do you throw up often (at least twice per week)? Do you have a poor appetite? Does it take a long time before you can swallow a mouthful? Do you press your tongue forward when you swallow so that food ends up outside the mouth? Do you find it difficult to chew, i.e. grind food using your molars? Do you find it difficult to take food from the spoon using your lips? Have you had problems with food and drink leaking out through the corners of your mouth? Does food tend to remain in your mouth after meals? Do you get nutrition in any other way than through your mouth? 58 56 56 9 48 4 5 57 45 55 57 55 56 Sida 6 av 7
7--8 Do you drool? About drooling Never drool Drool sometimes not every day Drool often every day Constant drooling 55 How much do you drool? Slight drooling, only on the lips Moderate drooling, on lip and chin Profuse drooling, on clothes Very profuse drooling, on hands/objects Is your drooling a problem for you?, very much so, some what, not really, not at all Is your drooling a problem for your family or people around you?, very much so, some what, not really, not at all Sida 7 av 7