[Bilateral spastic paresis without the ability to walk]. / Bilaterale spastische Paresen ohne Gehfähigkeit.

BACKGROUND: Developmental disorders and severe damage to major parts of the brain cause loss of motor, sensor, cognitive and mental function. These disorders cannot be medically treated in a sufficiently curative manner and are likely to develop into severe disability in children and adults. THERAPY: Medical nursing care and treatment aims to achieve the best possible quality of life by a lack of pain, ability to communicate, autonomy, and activities of daily life. As part of the team neuro-orthopedic surgeons have to analyze the orthostatic effects of motor functional disorders in order to set up a treatment plan that includes preventive and palliative treatment options by movement therapy, orthotic, medicinal, and surgical interventions. CONCLUSION: Pain and severe progressive deformities, such as contracture of extremity joints, hip dislocation, and spinal deformity must be prevented as far as possible. Activities of daily life should be enhanced by balancing and promoting muscle power and stabilizing weak and unstable parts of the body when possible.

[Quality assurance in the orthopaedic management of neuromuscular diseases]. / Qualitätssicherung in der Neuroorthopädie.

Increased interest in quality improvement has been brought about by advances in medical technology, health economics and social attitudes over the past decades. Targeted evaluation of infrastructure as well as therapeutic pathways and outcomes can help both patient and carer to achieve optimal treatment processes and a low error rate by means of continuous improvements. While on the one hand there is an urgent need for quality evaluation of health care in disabled persons, on the other this evaluation is challenging since quality of life has to be evaluated for each individual case. Neuroorthopaedic care involves diagnosis, analysis, treatment and rehabilitation of orthopaedic disorders resulting from cerebral and neuromuscular diseases. The aim of treatment is to achieve the best possible quality of life from infancy through to old age, which is measured according to pain-free movement as well as on the ability to actively participate in a social environment. To measure therapeutic outcome, technical methods such as electronic gait analysis, functional scores, questionnaires on subjective satisfaction, as well as economic evaluation of the cost-benefit ratio. Furthermore, medical treatment and technical and logistical processes are evaluated. Evaluation of structure quality provides information on personnel, time, infrastructure, cooperation and knowledge resources.

The role of human demographic history in determining the distribution and frequency of transferase-deficient galactosaemia mutations.

Classical or transferase-deficient galactosaemia is an inherited metabolic disorder caused by mutation in the human Galactose-1-phosphate uridyl transferase (GALT) gene. Of some 170 causative mutations reported, fewer than 10% are observed in more than one geographic region or ethnic group. To better understand the population history of the common GALT mutations, we have established a haplotyping system for the GALT locus incorporating eight single nucleotide polymorphisms and three short tandem repeat markers. We analysed haplotypes associated with the three most frequent GALT gene mutations, Q188R, K285N and Duarte-2 (D2), and estimated their age. Haplotype diversity, in conjunction with measures of genetic diversity and of linkage disequilibrium, indicated that Q188R and K285N are European mutations. The Q188R mutation arose in central Europe within the last 20 000 years, with its observed east-west cline of increasing relative allele frequency possibly being due to population expansion during the re-colonization of Europe by Homo sapiens in the Mesolithic age. K285N was found to be a younger mutation that originated in Eastern Europe and is probably more geographically restricted as it arose after all major European population expansions. The D2 variant was found to be an ancient mutation that originated before the expansion of Homo sapiens out of Africa.

[The hip joint in neuromuscular disorders]. / Hüftgelenk bei neuromuskulären Erkrankungen.

Physiologic motor and biomechanical parameters are prerequisites for normal hip development and hip function. Disorders of muscle activity and lack of weight bearing due to neuromuscular diseases may cause clinical symptoms such as an unstable hip or reduced range of motion. Disability and handicap because of pain, hip dislocation, osteoarthritis, gait disorders, or problems in seating and positioning are dependent on the severity of the disease, the time of occurrence, and the means of prevention and treatment. Preservation of pain-free and stable hip joints should be gained by balancing muscular forces and by preventing progressive dislocation. Most important is the exact indication of therapeutic options such as movement and standing therapy as well as drugs and surgery.