Problems in the musculoskeletal system

• Cervical Spine: Cervical kyphosis is present in 30 – 50% of individuals. It is due to hypoplasia of the vertebral bodies and progressive degenerative changes in the intervertebral joints. Kyphosis can be sufficiently severe and will causes a predisposition to spinal cord compression and quadriplegia (weakness of all 4 extremities and incontinence). Short, sharply angulated curves are associated with severe kyphosis and increase the incidence of neurological abnormalities. Surgery may be necessary to alleviate the spinal cord compression in the neck. A halo and vest device is usually employed after surgery to support the neck until stable fusion is achieved. Occasionally, the kyphosis will resolve spontaneously.
• Thoracolumbar Spine: Scoliosis, although not apparent at birth, will become severe as weight bearing increases. The curves usually develop around 5 years of age but can develop even before walking age. The spine curvature causes trunk deformity and barrel chest. Three distinct patterns of scoliosis occur: early progressive, idiopathic-type and mild non-progressive. Kyphoscoliosis occurs frequently (up to 90% of patients) in the lumbar region of the spine. Lumbar lordosis is increased due to exaggerated thoracic kyphosis and concomitant hip flexion contractures (hip joint is fixed with the thigh bent forwards).

• Severe clubfoot is almost always present and typically requires surgical release. Surgery is usually undertaken around 1-year of age, to enable the child to start walking. In spite of early intervention, recurrence of the foot deformity is common and an osteotomy may become necessary. Special shoes are oftentimes required.

  

• Progressive subluxation of the hips occurs because the soft articular cartilage is unable to perform its normal function of load bearing. Superimposed joint contractures around the hips and knees lead to restricted movement and deformity. If the deformity interferes with walking, an osteotomy is performed around the hips or knees. Due to the intrinsic cartilage abnormality, degenerative joint disease (arthritis) is common. Flexion deformities are pronounced. Knees are dislocated. Hip or knee replacement surgery is usually necessary in early to mid-adult life and typically has successful results.

• What are the physical characteristics of Diastrophic Dysplasia?
• How is the diagnosis made?
• Problems in the musculoskeletal system
• Problems elsewhere in the body
• What are things to watch out for?
• References