Comprehensive evaluation of velopharyngeal function in myasthenia gravis patients.

PURPOSE: Hypernasality, which is a symptom of dysarthria, may be seen in patients with Myasthenia Gravis with bulbar symptoms. However, there is not enough evidence to show that these patients may have velopharyngeal dysfunction. This study investigates the features of velopharyngeal function in myasthenia gravis patients using objective and subjective measurement tools. METHODS: Ten adult myasthenia gravis patients with bulbar symptoms and ten adult myasthenia gravis patients without bulbar symptoms were recruited for this study. Ten healthy subjects were also included as the control group. The nasalance scores of the participants were determined using a nasometer. The degree and pattern of velopharyngeal closure were scored using flexible nasoendoscopy during speech, blowing, dry swallowing, and food swallowing. Perceptual hypernasality was assessed. RESULTS: Velopharyngeal dysfunction was detected in 50% of the myasthenia gravis patients with bulbar symptoms. Velopharyngeal dysfunction was not seen in myasthenia gravis patients without bulbar symptoms. The degree of velopharyngeal closure in patients with bulbar symptoms differed depending on the tasks being performed. No significant difference in velopharyngeal closure patterns was observed between the groups (p < 0.05). CONCLUSION: Myasthenia gravis patients with bulbar involvement may have velopharyngeal dysfunction. It is important to conduct a comprehensive evaluation to assess all aspects of the velopharyngeal function.

A rare cause of proximal muscle weakness: immune necrotising myopathy.

Background Immune-mediated necrotising myopathies are characterised clinically by the subacute onset of proximal limb weakness, accompanied by elevated creatinine kinase levels. They are distinguished from other myopathies by the absence of prominent infiltration of the muscle with inflammatory cells in the biopsies. Case presentation A 44-year-old man presented with upper extremity weakness and dysphagia. Laboratory tests included a creatinine kinase level of 4362 U/L (normal: 52-336 U/L). Rheumatological markers were all negative. A muscle biopsy showed multiple necrotic fibres with minimal inflammatory infiltration. One gram of methylprednisolone (IV) was given, followed by 1 mg/kg of methylprednisolone daily by the oral route. Intravenous immunoglobulin (0.4 mg/kg/day) was given for five days. Muscle weakness regressed and dysphagia disappeared with treatment. The patient remains well in the 23rd month of treatment, taking 5 mg/day prednisolone and monthly intravenous immunoglobulin. Conclusion Treatment of immune-mediated necrotising myopathy can be challenging as evidence-based therapeutic options are limited. It is generally accepted that early and extensive immunosuppression, including glucocorticoids as first-line agents, may be required.

A database for screening and registering late onset Pompe disease in Turkey.

The aim of this study was to search for the frequency of late onset Pompe disease (LOPD) among patients who had a myopathy with unknown diagnosis registered in the pre-diagnostic part of a novel registry for LOPD within a collaborative study of neurologists working throughout Turkey. Included in the study were 350 patients older than 18 years who have a myopathic syndrome without a proven diagnosis by serum creatine kinase (CK) levels, electrodiagnostic studies, and/or muscle pathology, and/or genetic tests for myopathies other than LOPD. Acid alpha glucosidase (GAA) in dried blood spot was measured in each patient at two different university laboratories. LOPD was confirmed by mutation analysis in patients with decreased GAA levels from either both or one of the laboratories. Pre-diagnostic data, recorded by 45 investigators from 32 centers on 350 patients revealed low GAA levels in a total of 21 patients; from both laboratories in 6 and from either one of the laboratories in 15. Among them, genetic testing proved LOPD in 3 of 6 patients and 1 of 15 patients with decreased GAA levels from both or one of the laboratories respectively. Registry was transferred to Turkish Neurological Association after completion of the study for possible future use and development. Our collaborative study enabled collection of a considerable amount of data on the registry in a short time. GAA levels by dried blood spot even from two different laboratories in the same patient may not prove LOPD. LOPD seemed to be rarer in Turkey than in Europe.

Brachial Diparesis due to Motor Neuronopathy as One of the Predominant Presenting Signs of Occult Small Cell Lung Carcinoma.

Sensory neuronopathy is a well-established presentation in paraneoplastic neurological syndromes that is mostly associated with small cell lung cancer and anti-Hu antibodies. Motor neuronopathy, on the other hand, is an extremely rare observation in this syndrome. A 56-year-old man presented with asymmetric brachial diparesis and sensory ataxia. Electrophysiological studies revealed sensory ganglionopathy and progressive anterior horn degeneration in cervical segments. Small cell lung carcinoma with associated anti-Hu antibodies was later diagnosed. The patient did not improve despite the administration of steroids and chemotherapy. Paraneoplastic syndromes may exceptionally present with a bilateral arm weakness. Cases accompanied by sensory ganglionopathy should therefore be promptly investigated for any underlying malignancy.