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Forschung - Publikationsliste

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Muskeldystrophien und Muskelkrankheiten

Chest 2001 Sep;120(3):765-9 
2 Years' experience with inspiratory muscle training in patients with
neuromuscular disorders.
Koessler W, Wanke T, Winkler G, Nader A, Toifl K, Kurz H, Zwick H.

The aim of our study was to assess the long-term effects of specific inspiratory muscle training (IMT) in patients with neuromuscular disorders (NMDs) who have various degrees of respiratory impairment. Patients and methods:
Twenty-seven patients with NMDs (Duchenne's muscular dystrophy, 18 patients;
spinal muscular atrophy, 9 patients) underwent 24 months of IMT. Patients were divided into three groups according to their vital capacity (VC) values. VC was measured as the parameter for the respiratory system involvement of the disease. Maximal inspiratory pressure (PImax) was assessed as the parameter for respiratory muscle strength, and the results of the 12-s maximum voluntary ventilation test (12sMVV) were assessed as the parameter for respiratory muscle endurance. Pulmonary and inspiratory muscle function parameters were assessed 6 months before training, at the beginning of training, and then every 3 months.
RESULTS: The PImax values improved in group A (VC, 27 to 50% predicted) from 51.45 to 87.00 cm H(2)O, in group B (VC, 51 to 70% predicted) from 59.38 to 94.4 cm H(2)O, and in group C (VC, 71 to 96% predicted) from 71.25 to 99.00 cm H(2)O. The 12sMVV values improved in group A from 52.69 to 69.50 L/min, in group B from 53.18 to 62.40 L/min, and in group C from 59.48 to 70.5 L/min. For all three groups, there was a significant improvement of PImax (p < 0.007) and 12sMVV (p <0.015) until the 10th month when a plateau phase was reached with no decline in the following month until the end of training. CONCLUSION: With IMT, respiratory muscle function can be improved in the long term of up to 2 years.

Muscle Nerve 2000 Aug;23(8):1257-60 
Dose-dependent effects of inspiratory muscle training in neuromuscular
disorders.
Winkler G, Zifko U, Nader A, Frank W, Zwick H, Toifl K, Wanke T.

The goal of this study was to show whether a correlation exists between the intensity of specific respiratory muscle training and the improvement of strength and endurance in inspiratory musculature in patients with neuromuscular
disorders (NMD). Sixteen patients with NMD (13 with Duchenne muscular dystrophy and 3 with spinal muscular atrophy) performed inspiratory muscle training (IMT) at home with a special training apparatus for 9 months. Maximal inspiratory mouth pressure (PI(MAX)) and 12s-maximum voluntary ventilation (12s-MVV) test
served as parameter for inspiratory muscle strength and endurance, respectively. In patients whose inspiratory vital capacity (VC(in)) declined by less than 10% during the year before training began (n = 10), a significant
positive correlation was found etween the number of successfully completed strength and endurance exercises and the improvement of PI(MAX) (P < 0.05) and 12s-MVV (P < 0.05). In patients whose VC(in)-decline exceeded 10% (n = 6), indicating more progressive respiratory system involvement of the disease, no significant correlation between the improvement of PI(MAX) and 12s-MVV and the intensity of training was found. In patients with NMD, the effects of IMT-runs are dose-dependent, provided that the respiratory system involvement of the disease is only slowly progressive. Copyright 2000 John Wiley & Sons, Inc.

Wien Med Wochenschr 1996;146(9-10):213-6 
Innovative respiratory muscle training for patients with Duchenne muscular
dystrophy--a psychological evaluation
Ungar D, Gossler R, Toifl K, Wanke T.

For neuromuscular patients with progressive respiratory muscle weakness a new training apparatus was developed, which allows a home training of strength as well as endurance of the inspiratory muscles, especially the diaphragma. A
significant positive training result could be proved in a comparative study between 2 groups of 15 Duchenne muscular dystrophy (DMD) patients each (8). By the end of the training the satisfaction of patients with the new training
equipment was evaluated by means of a questionnaire. The degree of satisfaction was determined at a 10-point scale. Critical ideas were used for improvement of the newly developed training apparatus.

Chest 1994 Feb;105(2):475-82 
Inspiratory muscle training in patients with Duchenne muscular dystrophy.
Wanke T, Toifl K, Merkle M, Formanek D, Lahrmann H, Zwick H.

The aim of this study was to assess the usefulness of a specific inspiratory muscle training in Duchenne muscular dystrophy (DMD). PATIENTS AND METHODS: Fifteen patients with DMD started 6 months of training the inspiratory muscles and 15 patients served as a control group. Pulmonary and inspiratory
muscle funcion parameters were assessed 3 months before and at the beginning of training, in the first and third month of training, at the end, and 6 months after its cessation. Maximal sniff assessed esophageal and transdiaphragmatic
pressure values served as indices for global inspiratory muscle strength and diaphragmatic strength, respectively. Inspiratory muscle endurance was assessed by the length of time a certain inspiratory task could be maintained. RESULTS: In 10 of the 15 patients, respiratory muscle function parameters improved
significantly after 1 month of training. Further improvements were to be seen after 3 and after 6 months. Even 6 months after the end of training, those effects remained to a large extent. In the other five patients, there was no
such improvement after 1 month of training, which was therefore discontinued. All these five patients had vital capacity values of less than 25 percent predicted and/or PaCO2 values of more than 45 mm Hg. The 15 control patients had no significant change in their respiratory muscle function parameters.
CONCLUSION: We conclude that a specific inspiratory muscle training is useful in the early stage of DMD.

Wien Klin Wochenschr 1993;105(15):433-6 
The incidence of Duchenne muscular dystrophy in eastern Austria. The controversy
regarding CK screening.
Hauser E, Toifl K, Mad A, Bittner R.

The incidence of Duchenne muscular dystrophy (DMD) in Eastern Austria was investigated. From 1968-1983 302,643 boys were born, 68 of whom were subsequently identified as having Duchenne muscular dystrophy. The overall incidence with respect to live male births is 1:4451 (22.5 x 10(-5)). The mean
age of the children at the occurrence of the first symptoms was 3.1 (SD 1.1), at first presentation to a physician 4.8 (SD 2.0), and at diagnosis 5.5 (SD 1.7) years. DMD occurred in 56 families. These families had 73 boys with DMD, 5 of whom were born before or after the observation period. Thirteen families had two
affected boys and two families even had three. In 4 families a second boy suffering from DMD was born although the diagnosis of DMD had already been established in another close male relative. If a newborn male screening system
had been in function, 13 cases could possibly have been avoided. However, since in 3 cases the affected siblings were not both born within the observation period, they were excluded, leaving 10 cases. Hence, a prevention rate of 14.7% might have been achieved through creatine kinase (CK) screening and genetic
counselling.

Wien Klin Wochenschr 1991;103(7):207-9 
Molecular biology in diagnosis and detection of deletion in Duchenne muscular
dystrophy
Graninger W, Wintersberger W, Meron G, Smolen J, Toifl K, Vormittag W.

For the purpose of carrier identification and genetic counselling we investigated deletions of the Duchenne muscular dystrophy (DMD) gene in three families of patients with Duchenne muscular dystrophy. Using a limited number of
probes of the DMD cDNA in Southern blots, we detected a deletion in only one patient. Additional methodology is necessary to warrant reliable identification of carriers and exact prenatal diagnosis.

Wien Klin Wochenschr 1991;103(8):232-5 
Ineffectiveness of diltiazem in Duchenne muscular dystrophy: a
placebo-controlled double-blind study
Toifl K, Presterl E, Graninger W.

In a randomized double-blind study the clinical efficacy of the calcium channel blocker, diltiazem was compared to that of a placebo on the clinical course of Duchenne's dystrophy (DMD) over a 12-month period. Altogether 30 patients, mostly in an advanced state of the disease, were evaluated. The 17 patients in the diltiazem group received 90-360 mg diltiazem per day according to their body weight; the 13 patients of the placebo group received the equivalent amount of a placebo. No significant difference was detected between the two groups regarding
muscular power, muscle state, muscular functional ability (Vignos), serum myoglobin and serum creative phosphokinase.

Radiology 1990 Dec;177(3):825-8 
Neuromuscular diseases: evaluation with high-frequency sonography.
Dock W, Happak W, Grabenwoger F, Toifl K, Bittner R, Gruber H.

Forty-four patients with clinically suspected neuromuscular disease and 12 healthy volunteers underwent high-frequency ultrasound examination of the rectus femoris, vastus medialis, vastus lateralis, and biceps brachii muscles, and the number of perimysial septa was determined. These numbers and muscle/soft-tissue
ratios of the lowe extremity were compared. Findings were correlated with results of muscle biopsy in all patients with suspected disease. Using the number of perimysial septa in the lower extremity, the authors found significant
differences between the muscles of healthy volunteers and those of patients with Duchenne muscular dystrophies, other muscular dystrophies, and spinal muscular atrophies: The receiver operating characteristic curve showed that an average of 12 perimysial septa within 1 cm of muscle is the ideal cutoff value to differentiate subjects without morphologic changes from those with pathologic findings. The authors conclude that this measurement is useful for
differentiation of neuromuscular diseases and may be a noninvasive, reproducible means with which to evaluate disease progression.

Klin Padiatr 1986 Mar-Apr;198(2):119-21 
Articulation disorder as the initial manifestation of facioscapulohumeral
muscular dystrophy in childhood
Lischka A, Grisold W, Weninger M, Toifl K, Tatzer E.

A five year old boy who had received logopedic treatment for more than two years was seen as an outpatient because of speech retardation. He presented with myopathic face, incomplete closure of both lids and severe weakness of facial muscles, bilateral winging of scapulae and hyperlordosis. Extraocular and pharyngeal muscles were not affected. Motor and sensory nerve fibre conductions and electromyography were within normal limits. CPK was moderately elevated (320U/I). Muscle biopsy of right deltoid muscle revealed unspecific myopathic changes. The patients brother aged 7 also presented with facial weakness, elevated CPK and neurogenic changes in EMG of deltoid muscle. Both parents were clinically and electrophysiologically unremarkable. Although problems to speak
distinctly are usually not the first manifestation, we found in this family facio-scapulo-humeral muscular dystrophy.

EEG EMG Z Elektroenzephalogr Elektromyogr Verwandte Geb 1983 Mar;14(1):36-8
Determination of average fiber density (single fiber lead), quantitative
electromyography and serum CK in the detection of Duchenne carriers
Mamoli B, Toifl K, Vormittag W, Pateisky K.

The fibre density of the extensor digitorum communis muscle was examined with a monopolar single fiber electrode in 2 definite, one probable and 15 possible Duchenne-carriers. In addition serum-CK was evaluated three times in intervals of a least one week. The fibre density was increased in one definite, one probable and 4 possible carriers (greater than 1.6). The highest value was 2.0.Excepting one case the increase of fibre density was accompanied by an increase of serum-CK (greater than 60 mg%). The highest value of CK was 1626 mg%. The
conventional EMG was pathological in 2 cases. In no case with an increase of CK
or with pathological EMG the fibre density was normal. The fibre density is an
unspecific but rather sensible indicator of Duchenne-carriers but as we could
observe in a definite carrier, negative results do not exclude carriers.

Eur Neurol 1983;22(5):380-4 
Adenine metabolism in erythrocytes of patients with Duchenne muscular dystrophy.
Frass M, Toifl K, Leixnering W.

The primarily metabolic defect in Duchenne muscular dystrophy (DMD) is still
unknown. In addition to the disturbance of muscle cell and erythrocyte membranes
of patients with DMD an impairment of purine metabolism has been suggested on
the basis of the decreased ATP content of the muscle fibers. To avoid the
leakage of adenine nucleotides from cells, allopurinol has been administered to
DMD patients to increase the formation of adenine nucleotides via the salvage
pathway. The purpose of this study was to investigate this hypothesis of an
effect of allopurinol on the formation of adenine nucleotides. Furthermore, the
clinical status of allopurinol-treated DMD patients was examined. Biochemical
studies were performed on erythrocytes of 19 patients with DMD, and adenine
nucleotide concentrations and the incorporation of 14C-adenine into purine
nucleotides were assessed before and after 6 months of allopurinol therapy. No
improvement of the clinical status could be observed, although a slight increase
in ATP formation was seen.

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