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PAULA JONES Physiotherapist
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Physiotherapy guidelines for athletes with disabilities

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Editor's Notes

  1. Dwarfism: is a condition characterized by short stature. Technically, that means an adult height of 4 feet 10 inches or under, according to the advocacy group Little People of America (LPA). can be caused by any one of more than 200 conditions, most of which are genetic. The most common type, accounting for 70% of all cases of short stature, is called achondroplasia. can and most often does occur in families where both parents are of average height. In fact, 85% of children with achondroplasia are born to average-size parents. Dwarfism isn't: an intellectual disability. A person who has dwarfism is typically of normal intelligence. a disease that requires a "cure." Most people with the condition can live long, fulfilling lives. a reason to assume someone is incapable. Little people go to school, go to work, marry, and raise children, just like their average-size peers. No consensus of correct terminology – little people, short stature, dwarf all mentioned in the literature .
  2. Primordial Dwarfism is a category of disorders with many subtypes. The exact definition can vary from one type to another, but all are defined primarily by extreme short stature at birth. Unlike many other forms of Dwarfism, Primordial Dwarfism differs in that all of the bones and organs of the body are proportionally smaller than in an average person. When looking at a picture of an individual with Primordial Dwarfism, it can actually be difficult to realize how much smaller than an average person they are, unless there is something else in the photo to use for comparison.
  3. The standardized mortality ratio is increased for all age groups by a factor of 2.27 over that of the general population.children younger than 4 years, death most commonly occurs due to brain stem compression, which causes sudden death. 5-24 years, central nervous system and respiratory abnormalities are the common causes of death. 25-54 years, cardiovascular problems are the most frequent causes of death. Hypotonia is very evident from early on.  Motor development is delayed.  (See Table 1.)  Head control may not develop until seven to nine months of age because it takes longer to develop the muscular strength needed to control the overly large head. Table 1:  SKILLS ACHIEVED BY 90% OF CHILDREN ACCORDING TO THE DENVER DEVELOPMENTAL SCREENING TEST MilestonesAverage Child Child with Achondroplasia Smile2 to 2.5 mo2 to 3 mo Head Control4 to 7 mo7 to 9 mo Roll Over5 to 6 mo6 to 8 mo Sat with Propping 6 to 7 mo 7 to 9 mo Sit Alone 9 to 11 mo11 to 14 mo Crawl10 to 11 mo11 to 13 mo Pull up to Stand 11 to 14 mo14 to 18 mo Stand with Support 12 to 16 mo16 to 21 mo Stand Alone15 to 18 mo18 to 23 mo Walk with Support14 to 18 mo18 to 22 mo Walk Alone 17 to 22 mo22 to 30 mo Babbling Sounds 6 to 7 mo6 to 10 mo Said Momma/Dada 9 to 12 mo12 to 17 mo Said 2 Word Phrase15 to 20 mo20 to 30 moSaid Short Sentence24 to 25 mo25 to 36 mo Has the hypotonia increased?  It should gradually resolve as the muscles mature.  However if it worsens or there is presence of sleep apnea, there may be a compression of the cervical spine.  A common complication of achondroplasia is a narrowing of the foramen magnum, causing compression of the cervical spine.  This needs to be surgically corrected. As the child develops head control and begins sitting, a kyphosis of the lumbar spine can occur.  This may be corrected with a small back brace (Knight brace).  The Knight brace (Figure 1) is made with and adjustable soft abdominal shield.  This soft abdominal shield allows for abdominal breathing, which is very typical in achondroplasia The Knight Brace is most beneficial if worn between the ages of 8 to 18 months of age and should be used when the child is in the upright position.  If the kyphosis is not corrected, wedging of the vertebrae may occur leading to significant problems later in life Achondroplasia does not effect the development of soft tissue.  The muscle size is actually the same size as an average child's muscle would be.  However, it is less efficient because of the shorter distance over which it is stretched. During early childhood, there will most likely be a bowing of the legs.  This is caused by a faster growth rate of the fibula than that of the tibia the extensor muscles are weak and lengthened, while the flexors are short and stronger.  There is often an anterior pelvic tilt that may increase with age.  This can cause compression in the lumbar spine.  Eventually, the youngster may need to stop and squat while ambulating or standing.  This is one of the indications that spinal stenosis is occurring Early years:   Neurological symptoms from stenosis of spinal cord and foramen magnum   Thoraco-lumbar kyphosis   Delayed motor milestones Childhood:   Joint laxity (subluxed humerus)   Bowing of the lower extremities   Anterior pelvic tilt Teen years:    Lumbar stenosis    Independence in ADLs    Obesity
  4. Stenosis of the spinal canal and intervertebral foramen leads to symptoms such as low back pain, leg pain, dysesthesia, paresthesia, paraparesis, incontinence, and neurogenic claudication. Claudication may present as vague symptoms of aching or tiredness of the lower extremities induced by walking or standing. Symptoms may progress with a sensation of tingling and numbness and, eventually, weakness. Often, the pain is alleviated if the patient assumes a squatting position or bends forward. More than 50% of patients experience symptoms of lower extremity radiculopathy from nerve root compression or cauda equina syndrome . The mean age of onset of back or lower extremity symptoms is 26 years; one third of patients are younger than 15 years at onset. Symptoms due to abnormal curvature of the spine (eg, kyphosis, lordosis, scoliosis) may be present, such as deformity, back pain, respiratory dysfunction, neurologic involvement, or symptoms of spinal stenosis. The incidence of kyphoscoliosis may be as high as 33-50% in adults. However, the curve magnitude is generally less than 30° and generally does not require treatment. Spinal deformities are the most common and potentially disabling problems. 10,11,12 Spinal canal stenosis and stenosis of the intervertebral foramen are secondary to short thickened pedicles, interpedicular narrowing, thickened laminae, intervertebral disc herniation, degenerative spondylolysis, excessive lumbar lordosis, or anterior wedging of the vertebral bodies from thoracolumbar kyphosis. Sensory deficits, posterior column dysfunction, lower and upper motor neuron signs, and signs of neurologic claudication may be present. Signs of lower extremity radiculopathy from nerve root compression or cauda equina syndrome are present in more than 50% of patients. Four clinical syndromes may be observed: 1. Single or multiple disc lesions: usually in the lumbar region and presenting with a cauda equina lesion. 2. Generalized spinal stenosis: often beginning in the lumbar region with an intermittent claudicant history. Later the upper limbs become involved and a quadriparesis develops. 3. Severe thoraco-lumbar kyphosis with spinal block: clinically a progressive kyphosis with associated cord signs. 4. Foramen magnum insufficiency: compression of the medulla and upper cervical spine due to a small foramen magnum and a proximally placed atlas and axis.