Martin Winterholler

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In patients with late-onset glycogen storage disease type II, one mutation, c.−32−13T>G, in the α-glucosidase (GAA) gene is identified frequently in European populations from different regions along with many rarer mutations. We have performed molecular genetic investigations in 18 German index patients with late-onset disease. The c.−32−13T>G, c.525delT(More)
Low back pain is often treated with paraspinal injections of analgesics and steroids. Infectious complications of these techniques are rare but they can potentially hold high risks for the patients. History and clinical data of all patients admitted to a neurological unit suffering from community acquired purulent meningitis were prospectively analyzed(More)
A growing number of patients with neuromuscular disease have been treated with home mechanical ventilation during the past 15 years. We prospectively examined the long-term effects and complications of this method, particularly with regard to noninvasive positive pressure ventilation (NPPV). Thirty-one patients with amyotrophic lateral sclerosis (ALS, n =(More)
partialdruck (PaO2) und/oder ein erhöhter arterieller Kohlendioxidpartialdruck (PaCO2) treten im Frühstadium von Erkrankungen zuerst im Schlaf, unter körperlicher Belastung oder im Liegen auf. Daher können tagsüber in Ruhe die arteriellen/kapillären Blutgaspartialdrücke normal sein. Eine kompensierte respiratorische Insuffizienz liegt vor, wenn die(More)
This study aimed at providing real-life baseline, injection and outcome data for the treatment of various forms of spasticity with onabotulinumtoxin A in Germany. Prospective data were collected in an open multicenter patient registry from 2005 until 2010, encompassing the experience of ten specialized German centers in the treatment of spasticity using(More)
Hereditary spastic paraplegia (HSP) is characterized by lower extremity spasticity. Symptomatic therapy generally includes physical therapy and oral antispastic agents, in selected cases intrathecal baclofen. Because of the positive results in other treatments of spasticity, the use of botulinum neurotoxin type A (BoNT-A) might also be considered for(More)
About 80,000 polio survivors are still living 40 years after the last polio epidemics in Germany. Of these 40-70% have developed the so called post-polio syndrome (PPS) decades after the infection. The main symptoms of PPS are decreasing strength in voluntary muscles, pain and fatigue which occur spontaneously but may also be induced by physical stress and(More)
OBJECTIVE Paradoxical embolism via a patent foramen ovale (PFO) has been identified as a potential risk factor for ischaemic stroke. Such occurrences are associated with risk factors for deep vein thrombosis (DVT), e. g. pregnancy, immobilisation, and surgery of the lower limbs. OBSERVATION A 54-year-old otherwise healthy female presented with acute onset(More)
OBJECTIVE Amyotrophic lateral sclerosis is a rapidly progressive and fatal disease which has no known cure and limited symptomatic treatment. While coping strategies in more common diseases are widely assessed, coping is poorly understood in ALS. METHODS We examined 41 ALS patients using a standardised interview, a validated coping self-rating(More)