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| Division of Occupational Therapy - OT Connect Congenital Muscular Dystrophy
“In general, CMD is an autosomal-recessive disease that presents with severe proximal weakness at birth (or within the first year of life) and is either slowly progressive or nonprogressive. Contractures are common, and central nervous system (CNS) abnormalities can occur.” (Lopate, 2003). Current research offers much potential for slowing or reducing the impact of this type of disorder. Common Symptoms/Course of disease Condition usually remains static while some cases show slow progression. Some present with hypotonia (decreased muscle tone) or arthrogryposis and joint contractures. Respiratory and swallowing problems can also occur as well as seizures. Children born with the condition are usually severely impaired and have difficulty in all areas of occupational performance. Some Types of Congenital MD:
Age of Onset: Onset is usually at birth. Mortality/Morbidity: Depends on the type of Congenital Muscular Dystrophy. Some children die in infancy while others can live into young adulthood or adulthood with minimal deficits. Sex Bias: CMD is an autosomal-recessive disease which affects both males and females equally. Medical Treatment: Although genetic treatments are increasing available, at this time much of the medical intervention is aimed at treating the symptoms associated with the condition. Intensive supportive care is essential to maintain muscle activity, allow maximal functional ability, and extend life expectancy. Therapies include muscular training, customized seating and positioning devices, support for the development and maintenance of self-care and communication skills. Occupational Therapy is involved in adaptations to activities of daily living improving the person’s life and the introduction of assistive technologies. Occupational Therapy Involvement The occupational therapist often begins to work with children at the time their condition is first diagnosed. In the hospital environment, the occupational therapist will help the parents learn to position and handle their child for ordinary daily tasks like eating and dressing. Difficulties with eating and postural control are common in young children with CMD. The occupational therapist will work with the family to develop a customized plan to optimize the child's ability to participate in his or her daily occupations. Intervention focuses on supporting active participation in self-care, locomotion at home and in the community, and enhancing development. Occupational and physical therapists work closely to maintain motor skills, and, when the child is ready the occupational therapist introduces and trains the child to use assistive technology devices, like powered wheelchairs and computers to increase their function. As the children age, the occupational therapist can contribute to adaptation of living and work space, a well as in recommending and supporting the use of assistive technology devices. References
How OT Makes a Difference: Evidence-Based Practice Kakulas BA. (1999). Problems and solutions in the rehabilitation of patients with progressive muscular dystrophy. Scand J Rehabil Med Suppl. 1999;39:23-37. Siegel IM. (1981). Muscular dystrophy: multidisciplinary approach to management. Postgrad Med. 1981 Feb;69(2):124-8, 131-3. Liu M, Mineo K, Hanayama K, Fujiwara T, Chino N. (2003). Practical problems and management of seating through the clinical stages of Duchenne's muscular dystrophy. Arch Phys Med Rehabil. 2003 Jun;84(6):818-24. Ansved T. (2003). Muscular dystrophies: influence of physical conditioning on the disease evolution. Curr Opin Clin Nutr Metab Care. 2003 Jul;6(4):435-9. Dawson S, Kristjanson LJ. (2003). Mapping the journey: family carers' perceptions of issues related to end-stage care of individuals with muscular dystrophy or motor neurone disease. J Palliat Care. 2003 Spring;19(1):36-42. McDonald CM. (2002). Physical activity, health impairments, and disability in neuromuscular disease. Am J Phys Med Rehabil. 2002 Nov;81(11 Suppl):S108-20. Natterlund B, Ahlstrom G. (2001). Activities of daily living and quality of life in persons with muscular dystrophy. J Rehabil Med. 2001 Sep;33(5):206-11. Jutai J, Rigby P, Ryan S, Stickel S. (2000). Psychosocial impact of electronic aids to daily living. Assist Technol. 2000;12(2):123-31. Wahl, M. (December 1999). Skills for school and play: occupational therapy for children. Quest, 6, (5). Our three month old daughter, Amber, was recently given a preliminary diagnosis of congenital muscular dystrophy, with a distant secondary diagnosis of myotonic dystrophy. These diagnoses were based upon the preliminary read of the muscle biopsy and her symptoms of general hypotonia and multiple joint contractures. The diagnosis was somewhat of a surprise to us as she had initially shown a favorable CK muscle enzyme test and had been showing constant improvements in her condition. When she was born she could barely move her limbs and had very rapid respirations. She now shows a great deal of movement, can almost roll over, and has a great grip and range of movement. Her respirations are also much better and she recently had a check for blood gases which proved to be very favorable. Her current respirations are ~60 per minute which is on the high side of normal but much better than the 120-150 breaths per minute for the first week she was alive. Amber gets most of her food through a tube and cannot roll or sit upright. The occupational therapist has been working with us to provide a variety of sensory play experiences for Amber, because she cannot move and play without our help. Since the doctor said that Amber is ready to eat through her mouth, the occupational therapist has been been able to teach us how to provide mouth stimulation for Amber and how to safely begin to introduce foods. Amber has special equipment, recommended by the occupational therapist to help her sit upright for meals and playtime. Our occupational therapist has offered us hope and a positive outlook. The therapist has helped us understand Amber's special needs and has let us know about the advances in assistive technology that might help Amber play, learn, and communicate as she gets older.
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