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Chiropractic Research Review

MRI Analysis of Patients with Diastrophic Dysplasia

Diastrophic dysplasia (DD) is a rare inherited skeletal dysplasia. Typical findings in patients with this condition are short-limbed stature, multiple joint contractures, early degeneration of joints, and spinal deformities such as cervical kyphosis, scoliosis, and exaggerated lumbar lordosis.

This cross-sectional study evaluated the thoracic and lumbar spine in patients with diastrophic dysplasia, to identify the causative factors behind spinal deformities and restricted mobility of the spine.

A comprehensive clinical and radiologic assessment was performed on each patient. Diagnosis of DD was based on established clinical and radiologic findings of the disease. Eighty-eight patients (55 females and 33 males, ranging in age from 3 to 56 years old), were divided into four groups based upon their age. Each group received: medical history questionnaires; physical examinations; radiographs; MRIs; spinal cord and canal assessments; invertebral disc assessment; vertebrae and facet joint assessment; muscle status evaluation; statistical analysis of the prevalence of the various abnormalities; and ethical considerations.

Abnormal findings in MR imaging were common. Of the 88 patients, 70 (80%) had scoliosis, but the exact pathogenic mechanism of scoliosis remained unclear. The impaired mobility of the spine found on physical examination was attributed to abnormal intervertebral disc structure and height in addition to a high prevalence of spinal deformities. The basic histologic change in these patients was abnormal cartilage. It was noted that the severity of these changes increased with age.

In summary the results of this study of patients with DD showed:
* low back pain is mild and age dependent;
* scoliosis is common;
* mobility of the spine is restricted;
* the spinal cord is normal on MR imaging;
* the spinal canal is narrowed, but severe stenosis was uncommon;
* intervertebral discs are abnormal in all patients;
* muscular atrophy is common.

Remes V, Tervahartiala P, Poussa M, Peltonen J. Thoracic and lumbar spine in diastrophic dysplasia: a clinical and magnetic resonance imaging analysis. Spine 2001:26(2), pp. 87-195.

Chiropractic Research Review

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