We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), ar...We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of on set, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basop hilic rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of tw o Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usua lly been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expan sion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. Fr om this we conclude that AR ocubpharyngodistal myopathy is a distinct phenotypic al, histological, and genetic entity.展开更多
We report the findings in five muscle and three sural nerve biopsies,and in on e post mortem plexus specimen, from six patients with hereditary neuralgic amyot rophy (HNA). We found that the sensory nerves are definit...We report the findings in five muscle and three sural nerve biopsies,and in on e post mortem plexus specimen, from six patients with hereditary neuralgic amyot rophy (HNA). We found that the sensory nerves are definitely involved in HNA des pite the mainly motor symptoms, and that lesions in nerves and muscles are more wide spread throughout the peripheral nervous system than clinically presumed, b ut, simultaneously, very focally affect isolated fascicles within individual ner ves.展开更多
Background: Myotonia and weakness are the most important components of dysarth ric speech in myotonic dystrophy. Objective: To specify and quantify possible de fects in speech execution in patients with adult onset my...Background: Myotonia and weakness are the most important components of dysarth ric speech in myotonic dystrophy. Objective: To specify and quantify possible de fects in speech execution in patients with adult onset myotonic dystrophy. Metho ds: Studies on speech production were done on 30 mildly affected patients with m yotonic dystrophy. Special attention was paid to myotonia. Because muscle activi ty can result in a decrease of myotonia, speech characteristics were measured be fore and after warm up. The possibility that warming up causes increased weaknes s was also assessed. Results: As with other motor skills, a warm up effect was f ound in speech production, resulting in an increase in repetition rate and a dec rease in variability of repetition rate. Signs of fatigue did not occur. Conclus ions: Warming up is valuable for patients with myotonic dystrophy in reducing th e influence of myotonia on speech production.展开更多
Background: Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). Objective: Retroflexion of the head is a well known compensatory mechanism for ptosis, but generally retroflexion h...Background: Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). Objective: Retroflexion of the head is a well known compensatory mechanism for ptosis, but generally retroflexion has a negative effect on swallowing. We hypothesised that severity of ptosis is related to degree of retroflexion and that this compensation is responsible for deteriorating dysphagia. Methods: Nine OPMD patients were examined in the conditions “head position adapted to ptosis" and “head position slightly flexed". Ptosis was quantified by photogrammetry and retroflexion of the head by digital photographs. The severity of dysphagia was measured using visual analogue scales (VAS) and by calculating swallowing volumes and oropharyngeal swallow efficiency (OPSE) based on videofluoroscopy. Results: Statistical analyses show a significant relationship between ptosis and degree of retroflexion. The degree of retroflexion of the head correlated significantly with VAS scores and with the maximum swallowing volume. The slightly flexed head position significantly improved VAS scores as well as swallowing volumes and OPSE. Conclusion: In OPMD patients, ptosis significantly correlates with retroflexion of the head, which has a negative effect on swallowing. Subjective and objective reduction of swallowing problems was found when patients were instructed to eat and drink with a slightly flexed head position.展开更多
文摘We present a 25 year follow up of two siblings with autosomal recessive (AR) o culopharyngodistal myopathy. Remarkable in these patients, in comparison with pa tients with oculopharyngeal muscular dystrophy (OPMD), are the earlier age of on set, severe facial weakness, external ophthalmoplegia early in the course of the disease, and distal weakness in the limbs. Histological features included basop hilic rimmed vacuoles, but the typical OPMD intranuclear filaments were absent. These clinical and histological characteristics are comparable with those of tw o Japanese patients with AR oculopharyngodistal myopathy. This myopathy has usua lly been described as an autosomal dominant (AD) muscle disorder. It shares some clinical and histological characteristics with OPMD, but most patients with AD oculopharyngodistal myopathy are genetically different. Here we exclude an expan sion of the GCG repeat or any other mutation in the coding region of the PABPN1 gene (responsible for OPMD) in patients with AR oculopharyngodistal myopathy. Fr om this we conclude that AR ocubpharyngodistal myopathy is a distinct phenotypic al, histological, and genetic entity.
文摘We report the findings in five muscle and three sural nerve biopsies,and in on e post mortem plexus specimen, from six patients with hereditary neuralgic amyot rophy (HNA). We found that the sensory nerves are definitely involved in HNA des pite the mainly motor symptoms, and that lesions in nerves and muscles are more wide spread throughout the peripheral nervous system than clinically presumed, b ut, simultaneously, very focally affect isolated fascicles within individual ner ves.
文摘Background: Myotonia and weakness are the most important components of dysarth ric speech in myotonic dystrophy. Objective: To specify and quantify possible de fects in speech execution in patients with adult onset myotonic dystrophy. Metho ds: Studies on speech production were done on 30 mildly affected patients with m yotonic dystrophy. Special attention was paid to myotonia. Because muscle activi ty can result in a decrease of myotonia, speech characteristics were measured be fore and after warm up. The possibility that warming up causes increased weaknes s was also assessed. Results: As with other motor skills, a warm up effect was f ound in speech production, resulting in an increase in repetition rate and a dec rease in variability of repetition rate. Signs of fatigue did not occur. Conclus ions: Warming up is valuable for patients with myotonic dystrophy in reducing th e influence of myotonia on speech production.
文摘Background: Ptosis and dysphagia are important features in oculopharyngeal muscular dystrophy (OPMD). Objective: Retroflexion of the head is a well known compensatory mechanism for ptosis, but generally retroflexion has a negative effect on swallowing. We hypothesised that severity of ptosis is related to degree of retroflexion and that this compensation is responsible for deteriorating dysphagia. Methods: Nine OPMD patients were examined in the conditions “head position adapted to ptosis" and “head position slightly flexed". Ptosis was quantified by photogrammetry and retroflexion of the head by digital photographs. The severity of dysphagia was measured using visual analogue scales (VAS) and by calculating swallowing volumes and oropharyngeal swallow efficiency (OPSE) based on videofluoroscopy. Results: Statistical analyses show a significant relationship between ptosis and degree of retroflexion. The degree of retroflexion of the head correlated significantly with VAS scores and with the maximum swallowing volume. The slightly flexed head position significantly improved VAS scores as well as swallowing volumes and OPSE. Conclusion: In OPMD patients, ptosis significantly correlates with retroflexion of the head, which has a negative effect on swallowing. Subjective and objective reduction of swallowing problems was found when patients were instructed to eat and drink with a slightly flexed head position.
