- Email: [email protected]
Comparison of three functional assessment scales in neuromuscular diseases
Abstracts present in early adolescence with scapulo-peroneal muscle weakness and wasting, contractures of the Tendo Achilles and elbow flexors, and spinal rigidity. We report a case of EDMD with an unusually early presentation at the age of 2.5 years with pelvic weakness and tightness of the left Tendo Achilles, but no other contractures. Serum creatine kinase was elevated (1994 IU/I; normal < 200 IU/I); muscle biopsy showed marked dystrophic changes and a possible diagnosis of Duchenne or Becker, or a limb-girdle muscular dystrophy were considered. However, expression of dystrophin and ee-sarcoglycan, were normal, and no abnormalities in the DMD gene were found. Six years later clinical examination of the proband's maternal cousin, aged 14 years, showed typical features of EDMD. This was confirmed in both affected boys by the absence of emerin in muscle and leukocytes, and identification of a novel mutation in exon 4 of the STA gene. Carrier status in both mothers was also confirmed by mutational and protein analysis. Emery-Dreifuss muscular dystrophy should therefore be considered in all cases of unexplained early onset muscular dystrophy, even in the absence of the typical clinical features.
Keywords: Emery-Dreifuss; Muscular dystrophy; Emerin GP2.9 X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers J. Colomer a, J. Pradas b, M. Guitet a, J. Vila ~, J. Corbera ~, S. Manilal d, G.E. Morris d aServei de Neurologia, bServei d'Anatomia Patologica, ~Hospital de Sam Pau, Barcelona, Spain, aMR1C Biochemistry Group, N.E. Wales Institute, Wales, UK
Introduction. Emery-Dreifuss muscular dystrophy (EDMD), is characterised by cardiac conduction defect, muscular contractures and a slow progression usually inherited as a X-linked recessive form. Recently the gene responsible for the illness has been known as STA and is located in the Xq28 region. The deficient product of the gene is the emerin, a protein component of nuclear membrane and ubiquitous in different tissues. We report the findings of two brothers and their obligate carrier mother affected from this type of dystrophy. Patients and methods. The initial symptoms of the older brother, now 12 years old, was weakness in bending the arms and toe walking. The weakness spread slowly to the rest of the muscles developing contraetures at the elbows and in the Achilles tendon. The CK was 20× normal values. The ECG showed a migrated pacemaker. A muscular biopsy was performed on his younger brother now 6 that follow a very similar disease course. The stains for the emerin with a monoclonal NCL-emerin antibody did not show emerin. A G994>A deletion in the STA gene was detected. A skin biopsy was performed in the mother and tested with monoclonal NCL-emerin. About 50% of nuclei were emerin positive. Conclusion. The EDMD has a specific phenotype. The lack of emerin in the nuclear membrane and the presence of any mutation at the STA gene allow us to make the diagnosis. The ubiquity of the protein enables us to perform the diagnosis with a skin biopsy and at the same time to establish a carrier status. Keywords: Emery-Dreifuss muscular dystrophy; Emerin; Skin biopsy GP2.10 An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine F. Muntoni ~, J, Taylor~, V. Dubowitz ~, C.A. Sewry ~'b "Department of Paediatrics & Neonatal Medicine, t'MRC Muscle Cell Biology, Group, Hammersmith Hospital, London, UK We report five cases (3 males and 2 females) from 5 unrelated Cancasian families who presented in the first few years of life with symptoms of progressive muscle weakness affecting not only the proximal limb girdles, but also the distal muscles of the lower limbs and the neck flexors. All children had a similar clinical phenotype characterised by selective
445
weakness and wasting of the deltoids, biceps, neck flexors and distal leg muscles, followed shortly after by a severe rigidity of the spine and achilles tendon contractures. Intellectual function was normal. The age of onset was in the first 2 years of life in four children and in-utero in one. Motor milestones were normal in 4, and all cases achieved independent ambulation. The increasing spinal rigidity in conjunction with the marked neck weakness caused all 5 children to adopt a forward stooping posture with a hyper-extended neck, both when sitting and walking. Serum CK levels were markedly elevated in all (5-10 times the upper limit of normal). Muscle biopsies showed similar dystrophic changes and normal expression of dystrophin, sarcoglycans, laminin chains and emerin. All children followed a similar progressive clinical course and lost ambulation before the age of 8 years due to a combination of weakness and contractures. Three of these children have significantly impaired respiratory function and one has developed severe nocturnal hypoventilation. Cardiac function is normal. These cases appear to represent a severe, progressive, autosomal recessive muscular dystrophy, charactefised by early onset distal wasting, contractures, rigidity of the spine, and respiratory failure. While the clinical phenotype has some resemblance to a severe EmeryDreifuss dystrophy, there was no cardiac involvement and emerin was normal.
Keywords: Rigid spine; Distal myopathy; Autosomal recessive GP2.11 A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency D. Rdcan ~, S, Llense a, J.-C. Barbot a, F. Leturcq", N. Deburgrave a, J.-M. Dupontb, P. Warrot a, C. Giraudet a, F. Fraisse a, D. Amsallemc, J. Bensaid d, J.A. Urtizberea ~, G.E. Morris f J.-C. Kaplan"
~%aboratoire de Biochimie et Gdngtique Moleculaire, HOpital Cochin, F75014 Paris, J'Laboratoire de Cytogdndtique, H@ital Cochin F-75104 Paris, "Service de POdiatric, CHU St-Jacques, F-25030 Besanfon, riService de cardiologie, CHU Dupuytren, F-87402 Limoges, eDirection des Affaires Mddicales, AFM, F-91002 Evo:, France, fBiotechnology Group, NEW1, Plas Coch, Wrexham, LLI1 2AW, UK We present here a family that had been previously reported as a dominant form of Emery-Dreifuss muscular dystrophy (EDMD) because four patients (two males and two females) were affected in four generations. They exibited predominant cardiac symptoms (permanent auricular paralysis) requiring a pace-maker at age 14 in a male, 23 in his mother, and 42 in his maternal grand-mother, with atypical skeletal muscle involvement. Actually, the segregation in this family was compatible with X-linkage. The availability of anti-emerin antibodies helped in clarifying the issue. Emerin was found to be absent on Western blots of fibroblasts and lymphoblastoid cultured cells (LCL) from the youngest affected male. Emerin was only barely visible in LCL from his severely affected mother. The gene defect in this family is a deletion removing the distal part of the emerin (STA) gene. We found no X-autosome translocation in the manifesting female, however a skewed X chromosome inactivation was ascertained in her LCL by methylation sensitive restriction enzyme digestion of the androgen receptor (AR) locus. This family is intriguing because of the unusual severity of the cardiac involvement both in males and in females. We are currently investigating the 3' limit of the deletion. This observation examplifies the importance of analysing the emerin protein in suspected cases.
Keywords: Emery-Dreifuss muscular dystrophy; Emerin; Auricular paralysis
GP2.12 Comparison of three functional assessment scales in neuromuscular diseases Ayse Karaduman a, Ctineyt Akg61 a, 0znur Tuncaa, 0zgen Arasa, Yavuz Yakut a, Haluk Topaloglu b
446
Abstracts
~Hacettepe University, School of Physical Therapy and Rehabilitation, bHacettepe University, Pediatric Neurology Unit, Ankara, Turkey
GP2.14 A survey of neuromuscular disorders in children in western Sweden M& Tulinius, Anna-Karin Kroksmark, Niklas Darin
The validity of various functional assessment scales and their relation to muscle strength were studied in twenty subjects with neuromuscular diseases. Three functional scales were used: Pulses Profile, Modified Lawton and Barthel Index. Assessment data of each three scales were compared to both upper and lower extremity muscle strength. Our results showed that the Barthel Index correlated with upper and lower extremity muscle strength (P < 0.05), whereas the Pulses Profile did not (/'>0.05). Modified Lawton Scale only correlated with upper extremity muscle strength (P < 0.05).
Department of Pediatrics, Sahlgrenska University Hospital, S-416 85 GOteborg, Sweden
Keywords: Neuromuscular disease; Functional assessment; Muscle strength
GP2.13 Myopathy/rhabdomyolysis in patients after heart transplantation by presurgical treatment with lipid-lowering drugs? Interaction of cyclosporine and HMG-CoA reductase inhibitor therapy? U.P. Ketelsen, D. Trenk, E.M. Eschenbruch, P.J. Tollenaere
Albert-Ludwig University, Freiburg, Germany Recent clinical evidence indicates the potential for skeletal muscle toxicity after therapy with HMG-CoA-reductase inhibitors (HMGRI) in man. It may increase following concomitant drug therapy with immunosuppressants (e.g. cyclosporin A) and possibly with certain other hypolipidemic agents like gemfibrizol and niacin. Case report. A patient with left ventricular failure due to dilatative cardiomyopathy underwent orthotopic heart transplantation (HTx). The patient was treated with simvastatin (20 mg/day) up to HTx. Immunosuppression with cyclosporine, methylprednisolone and azathioprine was initiated. The patient developed fulminant rhabdomyolysis in the immediate postoperative course with creatine kinase (CK) activities up to 69 641 U/1 on the 5th day post HTx. Myoglobin in the serum increased up to 509 000 mg/1 (normal value: 90 mg/l). Despite maximum therapy he died ten days after HTx due to disseminated intravascular coagulation disturbances, rhabdomyolysis and acute renal failure. Myopathology. At the light microscopic level a post mortem biopsy (M. tibialis anterior) revealed marked myofibre injury characterised by necrosis and the loss of individual myofibres without any inflammatory infiltrates. Classification of fibre types revealed that injured fibres were mainly of type II. In PAS-stained sections a depletion of skeletal muscle glycogen was noted. Immunohistochemical investigations performed with antibodies to different proteins associated with the plasma membrane and the basilemma of muscle fibres (dystrophin, adhalin, spectrin, merosin) indicated a toxic deterioration of the plasmalemma while the basilemma was affected only to a minor extent. This could be confirmed by electron microscopy: affected fibres are only enclosed by the persisting basal lamina, while the integrity of the plasmalemma is totally broken down. Conclusion. This case report of fatal rhabdomyolysis and a retrospective analysis of nine further patients showed that seven out of ten were treated with lipid lowering drugs (simvastatin, lovastatin, gemfibrizol) up to HTx. CK was increased (>10 upper normal) in six out of these seven patients. Four of the patients (including the case of fatal rhabdomyolysis) experienced clinical symptoms of myopathy. This case report of fatal rhabdomyolysis and our retrospective analysis indicate that heart transplant recipients treated with cyclosporin might unexpectedly have a higher risk of developing myopathy/rhabdomyolysis if treatment with lipid lowering drugs is continued up to HTx or continued after cardiac transplantation. With regard to the underlying mechanism our myopathological results suggest a direct toxic effect, destabilising the plasmalemma of myofibres with loss of plasmalemma integrity while the basilemma is structurally preserved.
Keywords: Rhabdomyolysis; Heart transplantation; Hypolipemia
A survey of children up to 19 years of age attending child habilitation clinics in western Sweden was performed in October-December 1995. The total population in the survey area was 2.06 million inhabitants, of whom 502 000 were children. We found 214 children (prevalence of 0.43/ 1000 children) with the following diagnoses: spinal muscular atrophy 17, status post poliomyelitis 10, polyneuropathy 28, myasthenia gravis 6, myotonia congenita 4, Duchenne muscular dystrophy 31, Becket muscular dystrophy 6, facioscapulohumeral muscular dystrophy 3, scapulohumeral muscular dystrophy 1, congenital muscular dystrophy 4, myotonic dystrophy 19, mitochondrial myopathy 13, other metabolic myopathies 5, congenital myopathies 9, dermato-polymyositis 5, myopathies of unknown cause 28, arthrogryposis multiplex congenita 25. We have evaluated the medical history and motor function/muscle strength, combined with questionaires on activities of daily life, habilitation treatment and life quality. We have specifically studied children with spinal muscular atrophy, arthrogryposis multiplex congenita, Duchenne/Becker muscular dystrophy and myotonic dystrophy. Over 100 of the 214 patients have been examined so far at the child habilitation clinics. We have established how many patients are being treated for neuromuscular diseases and what their specific diagnoses are in the western part of Sweden. We have also surveyed different treatment forms, such as long-term corticosteroid therapy in Duchenne muscular dystrophy. This study will be followed by more detailed epidemiologal studies on neuromuscular disorders in the population and will give a good background for planing of services and investigations of different forms of intervention in the treatment of children with neuromuscular diseases.
Keywords: Neuromuscular disease; Arthrogryposis multiplex congenita: Epidemiology; Childhood
GP2.15 Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness N. Deconinck, V. Van Parijs, P.F. Laterre, M. Reynaert, R. Vormezeele, P. Van den Bergh
Service de Neurologie, Service d'Anantomie Pathologique, Service des Soins lntensifs, Cliniques Universitaires St-Luc, Universitd Catholique de Louvain, 10 Avenue Hippocrate, 1200 Brussels, Belgium Critical illness myopathy is a disorder, generally described in intensive care patients after having received n e u r o m u s c u l a r blocking agents or corticosteroids. We report 3 patients with this disorder. The first patient had e m e r g e n c y surgery for aortic dissection, complicated by anoxia for 10 min. She remained comatose for more than one week. After cessation of sedative drugs, weaning from the ventilator was very difficult. She was quadriplegic and limb movements were seen only 3 weeks later. She was discharged from the intensive care unit for rehabilitation with significant limb weakness after 3 months. The second patient, suffering from acute leukaemia, developed sepsis and confusion during chemotherapy. She needed mechanical ventilation for ARDS. After removal of sedative drugs, she was found to be quadriplegic and artificial ventilation needed to be continued. After 2 months, she died because of persistent ARDS and multiple organ failure. The third patient, suffering from chronic obstructive lung disease, developed p n e u m o n i a and staphylococcal sepsis, which persisted for 2 months. Artificial ventilation was necessary. She died 3 months later because of respiratory failure. Although the 3 patients had received a variety of drugs, they had not been exposed to corticosteroids or n e u r o m u s c u l a r blocking agents. Electrophysiological studies showed low amplitude compound muscle action potentials, fibrillation potentials and positive
Keywords: Emery-Dreifuss; Muscular dystrophy; Emerin GP2.9 X-linked Emery-Dreifuss muscular dystrophy: molecular diagnosis by protein analysis and use of the skin biopsy in female carriers J. Colomer a, J. Pradas b, M. Guitet a, J. Vila ~, J. Corbera ~, S. Manilal d, G.E. Morris d aServei de Neurologia, bServei d'Anatomia Patologica, ~Hospital de Sam Pau, Barcelona, Spain, aMR1C Biochemistry Group, N.E. Wales Institute, Wales, UK
Introduction. Emery-Dreifuss muscular dystrophy (EDMD), is characterised by cardiac conduction defect, muscular contractures and a slow progression usually inherited as a X-linked recessive form. Recently the gene responsible for the illness has been known as STA and is located in the Xq28 region. The deficient product of the gene is the emerin, a protein component of nuclear membrane and ubiquitous in different tissues. We report the findings of two brothers and their obligate carrier mother affected from this type of dystrophy. Patients and methods. The initial symptoms of the older brother, now 12 years old, was weakness in bending the arms and toe walking. The weakness spread slowly to the rest of the muscles developing contraetures at the elbows and in the Achilles tendon. The CK was 20× normal values. The ECG showed a migrated pacemaker. A muscular biopsy was performed on his younger brother now 6 that follow a very similar disease course. The stains for the emerin with a monoclonal NCL-emerin antibody did not show emerin. A G994>A deletion in the STA gene was detected. A skin biopsy was performed in the mother and tested with monoclonal NCL-emerin. About 50% of nuclei were emerin positive. Conclusion. The EDMD has a specific phenotype. The lack of emerin in the nuclear membrane and the presence of any mutation at the STA gene allow us to make the diagnosis. The ubiquity of the protein enables us to perform the diagnosis with a skin biopsy and at the same time to establish a carrier status. Keywords: Emery-Dreifuss muscular dystrophy; Emerin; Skin biopsy GP2.10 An early-onset autosomal recessive muscular dystrophy with distal wasting and rigidity of the spine F. Muntoni ~, J, Taylor~, V. Dubowitz ~, C.A. Sewry ~'b "Department of Paediatrics & Neonatal Medicine, t'MRC Muscle Cell Biology, Group, Hammersmith Hospital, London, UK We report five cases (3 males and 2 females) from 5 unrelated Cancasian families who presented in the first few years of life with symptoms of progressive muscle weakness affecting not only the proximal limb girdles, but also the distal muscles of the lower limbs and the neck flexors. All children had a similar clinical phenotype characterised by selective
445
weakness and wasting of the deltoids, biceps, neck flexors and distal leg muscles, followed shortly after by a severe rigidity of the spine and achilles tendon contractures. Intellectual function was normal. The age of onset was in the first 2 years of life in four children and in-utero in one. Motor milestones were normal in 4, and all cases achieved independent ambulation. The increasing spinal rigidity in conjunction with the marked neck weakness caused all 5 children to adopt a forward stooping posture with a hyper-extended neck, both when sitting and walking. Serum CK levels were markedly elevated in all (5-10 times the upper limit of normal). Muscle biopsies showed similar dystrophic changes and normal expression of dystrophin, sarcoglycans, laminin chains and emerin. All children followed a similar progressive clinical course and lost ambulation before the age of 8 years due to a combination of weakness and contractures. Three of these children have significantly impaired respiratory function and one has developed severe nocturnal hypoventilation. Cardiac function is normal. These cases appear to represent a severe, progressive, autosomal recessive muscular dystrophy, charactefised by early onset distal wasting, contractures, rigidity of the spine, and respiratory failure. While the clinical phenotype has some resemblance to a severe EmeryDreifuss dystrophy, there was no cardiac involvement and emerin was normal.
Keywords: Rigid spine; Distal myopathy; Autosomal recessive GP2.11 A family with severe pseudo-dominant Emery-Dreifuss muscular dystrophy due to emerin deficiency D. Rdcan ~, S, Llense a, J.-C. Barbot a, F. Leturcq", N. Deburgrave a, J.-M. Dupontb, P. Warrot a, C. Giraudet a, F. Fraisse a, D. Amsallemc, J. Bensaid d, J.A. Urtizberea ~, G.E. Morris f J.-C. Kaplan"
~%aboratoire de Biochimie et Gdngtique Moleculaire, HOpital Cochin, F75014 Paris, J'Laboratoire de Cytogdndtique, H@ital Cochin F-75104 Paris, "Service de POdiatric, CHU St-Jacques, F-25030 Besanfon, riService de cardiologie, CHU Dupuytren, F-87402 Limoges, eDirection des Affaires Mddicales, AFM, F-91002 Evo:, France, fBiotechnology Group, NEW1, Plas Coch, Wrexham, LLI1 2AW, UK We present here a family that had been previously reported as a dominant form of Emery-Dreifuss muscular dystrophy (EDMD) because four patients (two males and two females) were affected in four generations. They exibited predominant cardiac symptoms (permanent auricular paralysis) requiring a pace-maker at age 14 in a male, 23 in his mother, and 42 in his maternal grand-mother, with atypical skeletal muscle involvement. Actually, the segregation in this family was compatible with X-linkage. The availability of anti-emerin antibodies helped in clarifying the issue. Emerin was found to be absent on Western blots of fibroblasts and lymphoblastoid cultured cells (LCL) from the youngest affected male. Emerin was only barely visible in LCL from his severely affected mother. The gene defect in this family is a deletion removing the distal part of the emerin (STA) gene. We found no X-autosome translocation in the manifesting female, however a skewed X chromosome inactivation was ascertained in her LCL by methylation sensitive restriction enzyme digestion of the androgen receptor (AR) locus. This family is intriguing because of the unusual severity of the cardiac involvement both in males and in females. We are currently investigating the 3' limit of the deletion. This observation examplifies the importance of analysing the emerin protein in suspected cases.
Keywords: Emery-Dreifuss muscular dystrophy; Emerin; Auricular paralysis
GP2.12 Comparison of three functional assessment scales in neuromuscular diseases Ayse Karaduman a, Ctineyt Akg61 a, 0znur Tuncaa, 0zgen Arasa, Yavuz Yakut a, Haluk Topaloglu b
446
Abstracts
~Hacettepe University, School of Physical Therapy and Rehabilitation, bHacettepe University, Pediatric Neurology Unit, Ankara, Turkey
GP2.14 A survey of neuromuscular disorders in children in western Sweden M& Tulinius, Anna-Karin Kroksmark, Niklas Darin
The validity of various functional assessment scales and their relation to muscle strength were studied in twenty subjects with neuromuscular diseases. Three functional scales were used: Pulses Profile, Modified Lawton and Barthel Index. Assessment data of each three scales were compared to both upper and lower extremity muscle strength. Our results showed that the Barthel Index correlated with upper and lower extremity muscle strength (P < 0.05), whereas the Pulses Profile did not (/'>0.05). Modified Lawton Scale only correlated with upper extremity muscle strength (P < 0.05).
Department of Pediatrics, Sahlgrenska University Hospital, S-416 85 GOteborg, Sweden
Keywords: Neuromuscular disease; Functional assessment; Muscle strength
GP2.13 Myopathy/rhabdomyolysis in patients after heart transplantation by presurgical treatment with lipid-lowering drugs? Interaction of cyclosporine and HMG-CoA reductase inhibitor therapy? U.P. Ketelsen, D. Trenk, E.M. Eschenbruch, P.J. Tollenaere
Albert-Ludwig University, Freiburg, Germany Recent clinical evidence indicates the potential for skeletal muscle toxicity after therapy with HMG-CoA-reductase inhibitors (HMGRI) in man. It may increase following concomitant drug therapy with immunosuppressants (e.g. cyclosporin A) and possibly with certain other hypolipidemic agents like gemfibrizol and niacin. Case report. A patient with left ventricular failure due to dilatative cardiomyopathy underwent orthotopic heart transplantation (HTx). The patient was treated with simvastatin (20 mg/day) up to HTx. Immunosuppression with cyclosporine, methylprednisolone and azathioprine was initiated. The patient developed fulminant rhabdomyolysis in the immediate postoperative course with creatine kinase (CK) activities up to 69 641 U/1 on the 5th day post HTx. Myoglobin in the serum increased up to 509 000 mg/1 (normal value: 90 mg/l). Despite maximum therapy he died ten days after HTx due to disseminated intravascular coagulation disturbances, rhabdomyolysis and acute renal failure. Myopathology. At the light microscopic level a post mortem biopsy (M. tibialis anterior) revealed marked myofibre injury characterised by necrosis and the loss of individual myofibres without any inflammatory infiltrates. Classification of fibre types revealed that injured fibres were mainly of type II. In PAS-stained sections a depletion of skeletal muscle glycogen was noted. Immunohistochemical investigations performed with antibodies to different proteins associated with the plasma membrane and the basilemma of muscle fibres (dystrophin, adhalin, spectrin, merosin) indicated a toxic deterioration of the plasmalemma while the basilemma was affected only to a minor extent. This could be confirmed by electron microscopy: affected fibres are only enclosed by the persisting basal lamina, while the integrity of the plasmalemma is totally broken down. Conclusion. This case report of fatal rhabdomyolysis and a retrospective analysis of nine further patients showed that seven out of ten were treated with lipid lowering drugs (simvastatin, lovastatin, gemfibrizol) up to HTx. CK was increased (>10 upper normal) in six out of these seven patients. Four of the patients (including the case of fatal rhabdomyolysis) experienced clinical symptoms of myopathy. This case report of fatal rhabdomyolysis and our retrospective analysis indicate that heart transplant recipients treated with cyclosporin might unexpectedly have a higher risk of developing myopathy/rhabdomyolysis if treatment with lipid lowering drugs is continued up to HTx or continued after cardiac transplantation. With regard to the underlying mechanism our myopathological results suggest a direct toxic effect, destabilising the plasmalemma of myofibres with loss of plasmalemma integrity while the basilemma is structurally preserved.
Keywords: Rhabdomyolysis; Heart transplantation; Hypolipemia
A survey of children up to 19 years of age attending child habilitation clinics in western Sweden was performed in October-December 1995. The total population in the survey area was 2.06 million inhabitants, of whom 502 000 were children. We found 214 children (prevalence of 0.43/ 1000 children) with the following diagnoses: spinal muscular atrophy 17, status post poliomyelitis 10, polyneuropathy 28, myasthenia gravis 6, myotonia congenita 4, Duchenne muscular dystrophy 31, Becket muscular dystrophy 6, facioscapulohumeral muscular dystrophy 3, scapulohumeral muscular dystrophy 1, congenital muscular dystrophy 4, myotonic dystrophy 19, mitochondrial myopathy 13, other metabolic myopathies 5, congenital myopathies 9, dermato-polymyositis 5, myopathies of unknown cause 28, arthrogryposis multiplex congenita 25. We have evaluated the medical history and motor function/muscle strength, combined with questionaires on activities of daily life, habilitation treatment and life quality. We have specifically studied children with spinal muscular atrophy, arthrogryposis multiplex congenita, Duchenne/Becker muscular dystrophy and myotonic dystrophy. Over 100 of the 214 patients have been examined so far at the child habilitation clinics. We have established how many patients are being treated for neuromuscular diseases and what their specific diagnoses are in the western part of Sweden. We have also surveyed different treatment forms, such as long-term corticosteroid therapy in Duchenne muscular dystrophy. This study will be followed by more detailed epidemiologal studies on neuromuscular disorders in the population and will give a good background for planing of services and investigations of different forms of intervention in the treatment of children with neuromuscular diseases.
Keywords: Neuromuscular disease; Arthrogryposis multiplex congenita: Epidemiology; Childhood
GP2.15 Critical illness myopathy unrelated to corticosteroids or neuromuscular blocking agents: myopathy-myosin-critical illness N. Deconinck, V. Van Parijs, P.F. Laterre, M. Reynaert, R. Vormezeele, P. Van den Bergh
Service de Neurologie, Service d'Anantomie Pathologique, Service des Soins lntensifs, Cliniques Universitaires St-Luc, Universitd Catholique de Louvain, 10 Avenue Hippocrate, 1200 Brussels, Belgium Critical illness myopathy is a disorder, generally described in intensive care patients after having received n e u r o m u s c u l a r blocking agents or corticosteroids. We report 3 patients with this disorder. The first patient had e m e r g e n c y surgery for aortic dissection, complicated by anoxia for 10 min. She remained comatose for more than one week. After cessation of sedative drugs, weaning from the ventilator was very difficult. She was quadriplegic and limb movements were seen only 3 weeks later. She was discharged from the intensive care unit for rehabilitation with significant limb weakness after 3 months. The second patient, suffering from acute leukaemia, developed sepsis and confusion during chemotherapy. She needed mechanical ventilation for ARDS. After removal of sedative drugs, she was found to be quadriplegic and artificial ventilation needed to be continued. After 2 months, she died because of persistent ARDS and multiple organ failure. The third patient, suffering from chronic obstructive lung disease, developed p n e u m o n i a and staphylococcal sepsis, which persisted for 2 months. Artificial ventilation was necessary. She died 3 months later because of respiratory failure. Although the 3 patients had received a variety of drugs, they had not been exposed to corticosteroids or n e u r o m u s c u l a r blocking agents. Electrophysiological studies showed low amplitude compound muscle action potentials, fibrillation potentials and positive