8 niðurstöður
We describe a 72-year-old male with bulbospinal muscular atrophy (BSMA) who was being treated for diabetes mellitus and congestive heart failure due to an old myocardial infarction. Although BSMA is a rare form of X-linked spinal and bulbar muscular atrophy of late onset, this case is a sporadic
We describe our experience in treating a 69-year-old man with spinal progressive muscular atrophy (SPMA), who underwent a mitral valve replacement. He was admitted for dyspnea, and surgery was indicated for severe mitral insufficiency associated with inferior myocardial infarction. He had been aware
Emery-Dreifuss muscular dystrophy (EDMD) is a muscular disorder characterized by 1) early contracture of the elbows. Achilles tendons and post-cervical muscles, 2) slowly progressive muscle wasting and weakness with a humeroperoneal distribution, and 3) life-threatening cardiomyopathy with
A case of rigid spine syndrome associated with rimmed vacuoles in muscle biopsy is reported. A 36-year-old man was admitted to our hospital because of gait disturbance and limited mortality of the spine. His family was free from any neuromuscular disorders. He was born in normal pregnancy and
After atraumatic birth, three neonates presented with muscle hypotonia and weakness. Flaccid paresis of the upper extremities, spasticity of the lower extremities, dissociate sensory loss and autonomic dysfunction developed later. This ruled out the initial, tentative diagnoses of cerebral palsy,
Background: Hypoxia induces cell injury in cardiomyocytes and leads to the development of cardiovascular diseases. The survival motor neuron protein (SMN) is a crucial ubiquitous protein whose functional deficiency causes motor neuron
The BiPAP-System is a useful ventilatory support for patients with severe sleep apnea and need for high inspiratory pressure. Using the BiPAP as a full ventilatory support is new due to the recent addition of a timed control modus and individual control of inspiratory time. We used the new BiPAP
Over the last 2 decades the clinical application of physical exercise as a therapeutic strategy has developed from rehabilitation to prevention and treatment of cardiovascular diseases. This shift in clinical application was accompanied by a more systematic research approach of the involved