Der Nervenarzt
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Neuromodulatory techniques have developed rapidly in the therapeutic management of refractory headaches. Invasive procedures comprise peripheral nerve stimulation (particularly occipital nerve stimulation), vagus nerve stimulation, cervical spinal cord stimulation and hypothalamic deep brain stimulation. Transcutaneous electrical nerve stimulation, repetitive transcranial magnetic stimulation and transcranial direct current stimulation are noninvasive variants. ⋯ It is essential to confirm the correct headache diagnosis and the refractory nature before an invasive approach is considered. Patients should generally be referred to specialized interdisciplinary outpatient departments which closely collaborate with neurosurgeons who are experienced in the implantation of neuromodulatory devices. It is crucial to ensure a competent postoperative follow-up with optimization of stimulation parameters and adjustment of medication.
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The classic phenotype of the facioscapulohumeral muscular dystrophy (FSHD) includes an initially restricted pattern of asymmetric weakness of facial and shoulder girdle muscles. Disease progression is usually slow and typically accompanied by foot extensor muscle weakness and pelvic girdle weakness. Atypical patterns of FSHD that include isolated camptocormia and facial muscle sparing exceed current diagnostic criteria. ⋯ In the vast majority of cases, FSHD results from a heterozygous partial deletion of a critical number of repetitive elements (D4Z4) on chromosome 4q35 (4qA allele). Molecular diagnostic testing is appropriate to confirm the diagnosis of FSHD without need for muscle biopsy. Penetrance of this dominantly inherited disorder is high, exhibiting a great phenotypic variability in clinical pattern and disease progression even among affected members of the same family.