Cardiomyopathy in Duchenne Muscular Dystrophy: Current Value of Clinical, Electrophysiological and Imaging Findings in Children and Teenagers.

BACKGROUND: Progressive cardiomyopathy (CMP) is one main cause of death in DMD. This cross-sectional assessment of different cardiac diagnostic procedures focusses on preterm diagnosis of cardiac dysfunction. PATIENTS: 39 male DMD patients aged 6-20 years were included. 6 patients were still ambulatory, 21 patients received corticosteroid therapy. METHODS: All patients were investigated by ECG, Holter ECG and heart rate variability (HRV), B-type natriuretic peptide (BNP), echocardiography (TTE), tissue Doppler Imaging (TD) and magnetic resonance imaging (MRI) with Late Gadolinium enhancement (LE) and segmental wall motion analysis (WMA). RESULTS: 56% of the patients showed repolarization abnormalities and 76% altered HRV. Subnormal ventricular function was found in 25% by TTE and in 34% by MRI. TD differed from normal controls only in the apical septum. In MRI 89% of the patients showed different distribution and intensity of LE and WM restriction. The extent of LE was less in patients after steroid treatment (p<0.05). DISCUSSION: MRI with segmental LE- and WM-analysis seems to be superior to TTE and TD in exploring regional distribution and severity of damage of the myocardium. ECG and HRV abnormalities are common in DMD-patients but not tightly predictive for segmental and global left ventricular dysfunction. Targeted treatment of CMP in DMD needs prospective evaluation. CONCLUSION: A timely cardiac MRI is the most sensitive investigation for the identification of early myocardial changes in DMD which is a prerequisite for early interventions and therapeutic strategies.

[Current care strategies for Duchenne muscular dystrophy]. / Aktuelle Betreuungsstrategien bei Duchenne-Muskeldystrophie.

BACKGROUND: The medical care of patients with Duchenne muscular dystrophy (DMD) is an interdisciplinary and multifaceted task. The vast majority of those affected show a nearly constant course which is reflected in a corresponding stage-oriented treatment concept. Although there is still no causal therapy available for DMD, the course and in particular the quality of life of patients can be decisively improved by established medical practices. THERAPEUTIC STRATEGIES: The orthopedic problems of DMD patients include contractures of the upper and lower extremities as well as sitting instability due to progressive scoliosis with pelvic imbalance. The orthopedic treatment incorporates conservative measures, such as physiotherapy, provision of orthotic devices and wheelchairs as well as surgery to resolve contractures of the lower extremities and surgical stabilization of the spine. Furthermore, in these patients orthopedic surgeons and trauma surgeons are confronted with the treatment and prophylaxis of fractures induced by osteoporosis. An early onset of glucocorticoid therapy markedly delays the loss of motor abilities. TREATMENT ASPECTS: An important aspect in the care of DMD patients is the timely prophylaxis and treatment of respiratory insufficiency with regular sessions of breathing therapy, learning breathing and coughing techniques and the sufficiently early start of non-invasive mechanically assisted ventilation. Of similar relevance are also the early recognition and cardioprotective treatment of cardiomyopathy. CONCLUSION: The orthopedic surgeon accompanies the patient and family through all stages of the disease and must be appropriately informed on current management and treatment strategies even outside the limits of the personal field of specialization.

[Long-term results of Imhäuser osteotomy for chronic slipped femoral head epiphysiolysis]. / Langzeitergebnisse der Imhäuser-Osteotomie bei Epiphyseolysis capitis femoris lenta.

BACKGROUND: The treatment of slipped capital femoral epiphysis (SCFE) has produced in its complexity a great deal of discussion. One well-established method of operative treatment is the corrective intertrochanteric osteotomy according to Imhäuser. This study presents the clinical and radiological long-term results and the biomechanical impacts of this invasive intervention. PATIENTS AND METHODS: A total of 28 patients with chronic SCFE with slip angles between 30° and 60° were treated by Imhäuser osteotomy at an average age of 13.7 years (SD± 2.2 years, range 9-19 years) and were reexamined after an average period of 24 years (SD± 6.7 years, range 12-32 years). RESULTS: The results of the biomechanical analyses indicated an increase of force affecting the articulating joint postoperative compared to preoperative, even though the pressure on the joint decreased. This can be interpreted as a result of the enlargement of the articulating joint surface. Of the patients 17 achieved an excellent Harris hip score, 8 a good and 3 a satisfying result in the clinical assessment. There were significant differences in the degree of arthrosis between the side with and the side without osteotomy. Out of 27 cases 10 showed a decrease in the degree of arthrosis of the side with osteotomy whereas 3 cases showed an increase. In 14 cases no difference was measured. CONCLUSIONS: Despite the valgisation the Imhäuser osteotomy relieves the hip joint thus probably counteracting degenerative alterations even though being unable to fully prevent this progress. The good biomechanical, clinical and radiological results support indications for Imhäuser osteotomy for slip angles between 30° and 60°.

[Current strategies of conservative and operative treatment of the most frequent muscular disorders]. / Aktuelle Strategien der konservativen und operativen Therapie der häufigsten Muskelerkrankungen.

Though up to now no causal treatment for the majority of neuromuscular disorders is available, their disease progress and above all the quality of life of these patients can be decisively improved by established medical procedures. The main symptom is variably rapid, progressive muscle weakness, which leads to muscular imbalance and differently manifested impairment of motor functions. This results in the essential orthopaedic problems in these patients, e.g. contractures and deformities of the lower and upper extremities, foot deformities and sitting instability due to progressive scoliosis. Since the affected muscles have no physiological adaptability, they cannot be trained like healthy muscles. The orthopaedic treatment includes conservative methods, e.g. physiotherapy, orthotic devices and aids as well as surgical spine stabilisation and correction of the contractures of the lower extremities. Very important in the care of patients with neuromuscular disorders are the early prophylaxis and treatment of respiratory insufficiency by regular respiratory therapy to learn breathing and coughing techniques and self-exercises as well as the timely initiation of assisted ventilation.

[Musculoskeletal symptoms in patients with post-polio syndrome]. / Orthopädische Beschwerden und Funktionseinschränkungen beim Post-Polio-Syndrom.

BACKGROUND: The prevalence of the post-polio syndrome (PPS) is in estimated 50 % of persons with established poliomyelitis with a subsequently stable phase of at least 15 years. The basic mechanism is a loss of motoneuron cells in the spinal cord resulting in muscle weakness and fatigue. In addition pain, cold intolerance and a loss of stamina are frequently reported. There are few studies focusing on the orthopaedic symptoms in the PPS. This study should support the health-care professionals to the address the needs of PPS patients. METHODS: A questionnaire was developed to collect data on patients who have been diagnosed by a neurologist as fulfilling the criteria of a PPS. It consists of two parts. In the first part, general patient data are collected. In the second part, details of health, pain, and activities of daily living are collected at two points in time: the time of the stable phase immediately after the acute phase of the disease and the phase after the PPS diagnosis. The questionnaires were sent to patients with a diagnosis of PPS. A total of 124 questionnaires were analysed (male: 45, female: 79). Parts of the data were used to calculate a score. It was hypothesised that the score would demonstrate a higher load of orthopaedic symptoms in the PPS phase. RESULTS: The results show that the phase after poliomyelitis (stable phase vs. PPS phase) was associated with significantly different sum score relating to the orthopaedic impairments. The score in the stable phase is on average 18.6 units lower than that in the post-PPS diagnosis phase (p < 0.001). The hypothesis that in the PPS phase the load of orthopaedic symptoms is increased is confirmed by our data. The "loss of functioning in the upper extremity" is also significantly associated with the score (p = 0.004). CONCLUSIONS: At the time the survey was taken, patients reveal a high level of musculoskeletal impairments and disabilities after PPS than during the stable phase with regard to general health as well as pain status and performance of daily activities. Age has no significant impact. Many of the patients are severely limited, especially with regard to activities such as walking, climbing stairs, and performing simple household tasks. Since there is no causal therapy for the underlying degeneration of the anterior horn cell pools, treatment is focused on the compensation of the functional limitations.

[Botulinum toxin a treatment in spastic forms of cerebral palsy: a retrospective clinical study]. / Anwendung von Botulinumtoxin A in der Behandlung der spastischen infantilen Zerebralparese: Retrospektive klinische Beobachtungsstudie.

BACKGROUND: Botulinum toxin therapy now has a firm place in the treatment of spastic forms of cerebral palsy in children. This paper considers the subjective and practical results and the degrees of satisfaction from the point of view of the patients and their families. It also documents the data of infiltrations carried out under anaesthesia. PATIENTS AND METHODS: 57 patients with an average age of 11 (± 6.7; 2-30) and with infantile spastic cerebral palsy underwent altogether 118 botulinum toxin A infiltrations. The patients were divided into two groups: those with spastic hemiparesis or diparesis, and those with tetraparesis, and then compared with each other. The results of the treatment were evaluated from the point of view of the patients and their families with the help of a specially developed questionnaire. RESULTS: The study shows that, broadly-speaking, patients less affected with spastic hemiparesis or diparesis felt they profited more from the treatment than patients more severely affected with tetraparesis. The statistics also show that the first group's expectations were significantly more often fulfilled and that they more frequently perceived greater success after each infiltration than the group with tetraparesis. Most patients and their families from both groups were satisfied with the treatment. CONCLUSION: Patients and their families feel that the use of botulinum toxin in the management of spastic cerebral palsy in children is an effective and accepted form of treatment. The aims of the therapy should be defined accurately and realistically before starting treatment, especially for those severely affected with tetraparesis, and discussed in detail with both the patient and his/her family.