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EP 46. Sleep-disordered breathing and periodic limb movements in Kennedy’s disease
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Abstracts / Clinical Neurophysiology 127 (2016) e210–e303
dysfunction and are inherited in an autosomal recessive pattern. The phenotype an the age of onset vary between the different forms. A muscular biopsy can reveal signs of an inflammatory reaction in varying degree, though this is not necessary and occurs mostly in some subtypes. We report about a 32-year old female with severely elevated serum creatin kinase (80,000 U/l), which had been found in a routine blood sample 7 years ago. She first presented at an internal medicine department. At that time, only a mild proximal muscle weakness was present at best and physical performance was not impaired at all. Electromyography already showed myopathic changes with abnormal spontaneous activity. Muscle biopsy revealed an inflammatory reaction with distinctive signs of necrosis. Further tests gave no evidence for a paraneoplastic or rheumatologic condition. Suspecting a polymyositis, an immunosuppressive treatment was initiated, first with glucocorticosteroids, later with Methotrexate, Azathioprine, cyclosporine, intravenous immune globuline, Mycophenolat mofetil and Rituximab. Nevertheless, there was no improvement neither of serum creatin kinase nor of the muscle weakness. Instead, the weakness gradually evolved into a tetraparesis. When she finally presented to our department, she could walk no more than a few steps and was not able to get up from a chair. The progressive course of the disease under sufficient immunosuppressive therapy let us think of a chronic degenerative process, such as a muscular dystrophy. Upon further inquiry, the from Sicily originating patient told us about a consanguinity of her parents. The late manifestation (no relevant symptoms until the age of 25, the highly elevated serum creatin kinase and the inflammation in the muscle biopsy were compatible to a dysferlinopathy, a subtype of limbgirdle muscular dystrophy. Genetic testing revealed a yet unknown homozygotic mutation in the dysferlin gene causing the disease. Unfortunately, no other treatment could be proposed to the patient besides physical and occupational therapy. In summary, even though elevated serum creatin kinase and inflammatory changes in the muscle biopsy often point to polymyositis, this is not always the case. In some types of autosomal recessive forms of LGMD (besides LGMD2B notably 2L, 2M and 2N) distinctive inflammatory changes can be detected histopathologically. Especially disease progression despite sufficient immunosuppressive therapy should lead to reevaluation of the diagnosis doi:10.1016/j.clinph.2016.05.099
EP 46. Sleep-disordered breathing and periodic limb movements in Kennedy’s disease—L. Langenbruch *, P. Young, M. Boentert (Universitätsklinikum Münster, Klinik für Schlafmedizin und neuromuskuläre Erkrankungen, Münster, Germany) ⇑
Corresponding author.
Introduction: Spinal and bulbar muscular atrophy (Kennedy’s disease, KD) is an x-chromosomal recessive disorder caused by a CAG-repeat expansion in the androgen receptor gene. Its pathophysiology includes progressive degeneration of bulbar and spinal motor neurons making KD one of the most important differential diagnoses of ALS in male patients. Symptom onset is most often in the fourth or fifth decade with slowly progressive weakness and atrophy of bulbar and limb-girdle muscles, prominent facial fasciculations, fibrillations of the tongue, dysarthria, dysphagia, and endocrine abnormalities. There is evidence for an increased prevalence of both obstructive sleep apnea and periodic limb movements in sleep (PLMS) in patients with KD.
Patients and methods: We report on 14 patients with Kennedy’s disease who underwent diagnostic polysomnography. Overnight transcutaneous capnometry and early morning blood gas analysis were performed in 12 patients. All patients answered the Epworth Sleepiness Scale (ESS) scale which reflects self-reported sleep propensity during daytime. Results: Mean age was 53.3 (9.5) years, mean body mass index was 27.2 (3.4), and 3 patients were obese (BMI > 30). Mean ESS score was 10.3, and five individuals had an ESS score above 10. 9/14 patients were diagnosed with obstructive sleep apnea (OSA) as defined by an apnea hypopnea index (AHI) above 5.0/h Mean AHI was 8.8/h, with a range from 0.1/h to 23.8/h. ESS sum score and AHI showed no significant correlation. Nocturnal hypercapnia (tcCO2 > 50 mmHg) was found in none of the patients, and DtcCO2 was greater than 10 mmHg from baseline in only one individual. Daytime hypercapnia (pCO2 > 45 mmHg) was found in one patient with additional increase of the arterial base excess. 6/14 patients showed PLMS (PLM index above 15/h), but association with arousals was present only in one individual. The PLM index did not correlate with total sleep time, total wake time, and percentage of sleep stages N3 and REM, respectively. Conclusion: Our data confirm a previous study with 9 patients showing that OSA is highly prevalent in patients with KD. In addition, sleep-disordered breathing may also include alveolar hypoventilation in a subset of patients. In addition, PLMS are a common finding in patients with KD but do not appear to impair objective measures of sleep quality. In summary, patients with KD should undergo low-threshold sleep studies including polysomnography and transcutaneous capnometry. doi:10.1016/j.clinph.2016.05.100
EP 47. Direct assessment of psychosocial measures using Eye Tracking Technology in advanced ALS – Can preserved autonomy and psychological wellbeing modify disease course?— K. Linse a,*, W. Rüger b, M. Joos b, H. Schmitz-Peiffer c, A. Storch d,e,a, A. Hermann e,a (a Universitätsklinikum Dresden, Neurologie, Neurodegenerative Erkrankungen, Dresden, Germany, b Interactive Minds Research, Dresden, Germany, c Universitätsklinikum Dresden, Neurologie, Dresden, Germany, d Universitätsklinik, Neurologie, Rostock, Germany, e Deutsches Zentrum für Neurodegenerative Erkrankungen, Satellit Dresden, Germany) ⇑
Corresponding author.
Background: Amyotrophic lateral sclerosis is a terminal motor neuron disease, with progressive paralysis, dysarthria, dysphagia and respiratory disabilities. Eye Tracking based computer systems (ETCS) facilitate communication and participation in advanced quadriplegic and anarthric disease state. The impact of ALS on patients and caregivers wellbeing is controversial, with patients showing surprisingly preserved psychological functioning in some studies. Quality of Life, depression and the impact of communicative functioning, especially ETCS usage in the advanced, quadriplegic disease state has not yet been investigated in a direct, fully independent manner, using ETCS technology. Methods: ETCS-based versions of widely used psychosocial questionnaires (ACSA, ADI-12, SeiQoL-DW, WHO-5) as well as a new questionnaire on communicative functioning were developed. 30 ALS-patients in an advanced disease state were screened, of whom 11 could complete study procedures (ALS-FRS-R: 5.3 ± 5.9; ALS
Abstracts / Clinical Neurophysiology 127 (2016) e210–e303
dysfunction and are inherited in an autosomal recessive pattern. The phenotype an the age of onset vary between the different forms. A muscular biopsy can reveal signs of an inflammatory reaction in varying degree, though this is not necessary and occurs mostly in some subtypes. We report about a 32-year old female with severely elevated serum creatin kinase (80,000 U/l), which had been found in a routine blood sample 7 years ago. She first presented at an internal medicine department. At that time, only a mild proximal muscle weakness was present at best and physical performance was not impaired at all. Electromyography already showed myopathic changes with abnormal spontaneous activity. Muscle biopsy revealed an inflammatory reaction with distinctive signs of necrosis. Further tests gave no evidence for a paraneoplastic or rheumatologic condition. Suspecting a polymyositis, an immunosuppressive treatment was initiated, first with glucocorticosteroids, later with Methotrexate, Azathioprine, cyclosporine, intravenous immune globuline, Mycophenolat mofetil and Rituximab. Nevertheless, there was no improvement neither of serum creatin kinase nor of the muscle weakness. Instead, the weakness gradually evolved into a tetraparesis. When she finally presented to our department, she could walk no more than a few steps and was not able to get up from a chair. The progressive course of the disease under sufficient immunosuppressive therapy let us think of a chronic degenerative process, such as a muscular dystrophy. Upon further inquiry, the from Sicily originating patient told us about a consanguinity of her parents. The late manifestation (no relevant symptoms until the age of 25, the highly elevated serum creatin kinase and the inflammation in the muscle biopsy were compatible to a dysferlinopathy, a subtype of limbgirdle muscular dystrophy. Genetic testing revealed a yet unknown homozygotic mutation in the dysferlin gene causing the disease. Unfortunately, no other treatment could be proposed to the patient besides physical and occupational therapy. In summary, even though elevated serum creatin kinase and inflammatory changes in the muscle biopsy often point to polymyositis, this is not always the case. In some types of autosomal recessive forms of LGMD (besides LGMD2B notably 2L, 2M and 2N) distinctive inflammatory changes can be detected histopathologically. Especially disease progression despite sufficient immunosuppressive therapy should lead to reevaluation of the diagnosis doi:10.1016/j.clinph.2016.05.099
EP 46. Sleep-disordered breathing and periodic limb movements in Kennedy’s disease—L. Langenbruch *, P. Young, M. Boentert (Universitätsklinikum Münster, Klinik für Schlafmedizin und neuromuskuläre Erkrankungen, Münster, Germany) ⇑
Corresponding author.
Introduction: Spinal and bulbar muscular atrophy (Kennedy’s disease, KD) is an x-chromosomal recessive disorder caused by a CAG-repeat expansion in the androgen receptor gene. Its pathophysiology includes progressive degeneration of bulbar and spinal motor neurons making KD one of the most important differential diagnoses of ALS in male patients. Symptom onset is most often in the fourth or fifth decade with slowly progressive weakness and atrophy of bulbar and limb-girdle muscles, prominent facial fasciculations, fibrillations of the tongue, dysarthria, dysphagia, and endocrine abnormalities. There is evidence for an increased prevalence of both obstructive sleep apnea and periodic limb movements in sleep (PLMS) in patients with KD.
Patients and methods: We report on 14 patients with Kennedy’s disease who underwent diagnostic polysomnography. Overnight transcutaneous capnometry and early morning blood gas analysis were performed in 12 patients. All patients answered the Epworth Sleepiness Scale (ESS) scale which reflects self-reported sleep propensity during daytime. Results: Mean age was 53.3 (9.5) years, mean body mass index was 27.2 (3.4), and 3 patients were obese (BMI > 30). Mean ESS score was 10.3, and five individuals had an ESS score above 10. 9/14 patients were diagnosed with obstructive sleep apnea (OSA) as defined by an apnea hypopnea index (AHI) above 5.0/h Mean AHI was 8.8/h, with a range from 0.1/h to 23.8/h. ESS sum score and AHI showed no significant correlation. Nocturnal hypercapnia (tcCO2 > 50 mmHg) was found in none of the patients, and DtcCO2 was greater than 10 mmHg from baseline in only one individual. Daytime hypercapnia (pCO2 > 45 mmHg) was found in one patient with additional increase of the arterial base excess. 6/14 patients showed PLMS (PLM index above 15/h), but association with arousals was present only in one individual. The PLM index did not correlate with total sleep time, total wake time, and percentage of sleep stages N3 and REM, respectively. Conclusion: Our data confirm a previous study with 9 patients showing that OSA is highly prevalent in patients with KD. In addition, sleep-disordered breathing may also include alveolar hypoventilation in a subset of patients. In addition, PLMS are a common finding in patients with KD but do not appear to impair objective measures of sleep quality. In summary, patients with KD should undergo low-threshold sleep studies including polysomnography and transcutaneous capnometry. doi:10.1016/j.clinph.2016.05.100
EP 47. Direct assessment of psychosocial measures using Eye Tracking Technology in advanced ALS – Can preserved autonomy and psychological wellbeing modify disease course?— K. Linse a,*, W. Rüger b, M. Joos b, H. Schmitz-Peiffer c, A. Storch d,e,a, A. Hermann e,a (a Universitätsklinikum Dresden, Neurologie, Neurodegenerative Erkrankungen, Dresden, Germany, b Interactive Minds Research, Dresden, Germany, c Universitätsklinikum Dresden, Neurologie, Dresden, Germany, d Universitätsklinik, Neurologie, Rostock, Germany, e Deutsches Zentrum für Neurodegenerative Erkrankungen, Satellit Dresden, Germany) ⇑
Corresponding author.
Background: Amyotrophic lateral sclerosis is a terminal motor neuron disease, with progressive paralysis, dysarthria, dysphagia and respiratory disabilities. Eye Tracking based computer systems (ETCS) facilitate communication and participation in advanced quadriplegic and anarthric disease state. The impact of ALS on patients and caregivers wellbeing is controversial, with patients showing surprisingly preserved psychological functioning in some studies. Quality of Life, depression and the impact of communicative functioning, especially ETCS usage in the advanced, quadriplegic disease state has not yet been investigated in a direct, fully independent manner, using ETCS technology. Methods: ETCS-based versions of widely used psychosocial questionnaires (ACSA, ADI-12, SeiQoL-DW, WHO-5) as well as a new questionnaire on communicative functioning were developed. 30 ALS-patients in an advanced disease state were screened, of whom 11 could complete study procedures (ALS-FRS-R: 5.3 ± 5.9; ALS