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Study of muscle regeneration in muscular dystrophies
474
Abstracts"
first decade but not at birth. A report of congenital AD DSMA had neurogenic EMG and muscle biopsy, however NCS were not reported and weakness was not progressive (Lugaresi, 1966). AD neurogenic arthrogryposis is not progressive which differentiates this from SMA (Fleury, 1985; Hall, 1982). This may be the first case of well documented congenital AD DSMA with progression.
the regenerative effort is high even in severely affected dystrophic muscle and the immunohistochemistry with Leu-19 is a suitable method to recognize the regenerating muscle fibers in different muscle diseases.
Keywords: Distal spinal muscular atrophy; Autosomal dominant; Conge-
GP5.5 Persistent motor neuron discharges of central origin aggravated by alcohol M. A1-Jumah ~, G. Elleker b, H. Brookesb
nital
GP5.3 Macro-EMG in carriers of Duchenne muscular dystrophy E. Szmidt-Salkowska, K. Rowinska-Marcinska, I. Hausmanowa-Petmsewicz
Department of Neurology, Warsaw Medical School, Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland The aim of our study was to analyse possible myopathic changes in the muscles in manifesting carriers of Duchenne muscular dystrophy (DMD) using quantitative EMG (mainly macroEMG). Our material consisted of 10 manifesting Duchenne carriers aged 9-52 (mean 30 years old) and 20 healthy age-matched females. Seven carriers were mothers of affected boys with DMD, 1 was their sister, 1 was a daughter of patient with Becket muscular dystrophy, 1 was a sporadic case. In all examined carriers increased serum CK level and mosaic configuration of dystrophin in muscle biopsy was observed. Concentric needle EMGs were performed in biceps brachii and rectus femoris muscles, macroEMG in biceps brachii in groups of carriers and in controls. Duration, amplitude, area, polyphasity of MUPs and interference pattern using CNEMG, amplitude, area of macro potentials and fiber density were estimated. Concentric needle EMG revealed in 5 of 10 manifesting carriers increased number of polyphasic potentials, in 4 of 10 cases decreased value of area of CNMUPs, reduced duration of MUPs in 1 case. MacroEMG revealed in 7 carriers so-called "myopathic" changes. Median amplitude and area of macro potentials showed a reduced value compared to controls (88 /zV and 262 /zV ms, respectively to 160 ~V and 410 IzV ms) in a group of carriers. Fiber density was within normal values in both groups. MacroEMG is sensitive electrophysiological method revealed myogenic changes in the muscle in carriers of DMD. Additionally, reflex generally in many muscles shows pathological changes, in contrast to dystophin expression which differs in various fibres and muscles in DMD carriers.
Keywords: Concentric needle EMG; MacroEMG; Carriers of DMD
GP5.4 Study of muscle regeneration in muscular dystrophies F. Mechler, J.M. Molnar
Department of Neurology, UniversiO~ Med. School of Debrecen, H-4012 Debrecen, Hungary Insufficient regenerative capacity might be the cause of muscle fiber necrosis in muscular dystrophy. Desmin is highly represented in regenerative muscle fibers and they express neutral cell adhesion molecules (NCAM), too. In this study the histological signs of regeneration were investigated in different types of muscular dystrophy. The percentage of desmin and Leu- 19 positive muscle fibers was determined immunohistochemically in 9 patients with dystrophinopathies, 9 patients with other types of muscular dystrophy and 7 patients with nearogenic muscle diseases. In 7 cases double biopsy was performed involving one moderately and one severely affected muscle. The Mann-Whitney U-test was used for statistical evaluation. The percentage of desmin and Leu-19 positive fibers was significantly higher in muscular dystrophies than in neurogenic atrophies and severely affected muscles showed higher percentage of regenerating fibers than less affected ones. Leu-19 was found to be more sensitive than desrain in recognising the regenerating muscle fibers. Our results suggest that
Keywords: Muscular dystrophy; Muscle regeneration; Immunohistochemistry
~King Fahad National Guard Hospital. Riyadh, Saudi Arabia, bUniversiO, of Alberta, Edmonton, Canada Neurological disorders with persistent motor unit discharges at rest may be divided into two categories, i.e., those of peripheral origin like Isaccs-Merten's and Shwartz-Jampel's syndromes and those of central origin such as stiff-man syndrome. We describe a 30-year-old woman with a 6-year history of intermittent spasms of both legs. She described painful, rigid 'tightening' of her calves and posterior thigh muscles with difficulties in movements and walking. Her symptoms were aggravated by alcohol ingestion and extensive exercise. Her examination was normal apart from bilateral calf muscle hypertrophy. Except for persistent motor unit discharges at rest both NCS and EMG demonstrated no abnormalities. These discharges disappeared following spinal anesthesia and peripheral nerve block pointing to their central origin. She demonstrated a good response to low dose Baclofen. Our case is different from patients with the stiff-man syndrome in both the distribution or muscle involvement and the good response to GABA derivative Baclofen. We have found a single similar case in the literature. A video recording of patient EMG at rest, pre and post spinal anesthesia and peripheral nerve block will be shown and the ways to differentiate between these syndromes will be discussed.
Keywords: Motor unit discharges; Stiff-man; Baclofen GP5.6 Congenital club foot with survival motor neuron gene deletion B. Echenne, F. Rivier, A. Roubertie, V. Humbertclaude
Service de Neuropediatrie, HF)pital Saint-EIoi, 34295 Montpellier, France A boy, born after an uneventful pregnancy, had a non-reducible bilateral congenital talipes equinovarus, with marked amyotrophy of both legs. The dizygotic twin brother was normal. This severe congenital club foot was surgically treated at 6 months of age. The motor milestones were then delayed; he walked without support at 2 years. He had generalized hypotonia and areflexia, with waddling gait and proximal muscular weakness. A myopathy was suspected but the CK was normal, and neurogenic changes were found on EMG and on muscular biopsy. The condition remained stable until he was 8 years old. Thereafter, a slow worsening was observed, with increased waddling gait, Gower's sign, and abnormal tiredness, leading to a typical aspect of myopathy. The EMG however, remained neurogenic, and a homozygous deletion of exon 7 of the SMN gene was found, leading to the diagnosis of SMA. Deletions of the SMN gene have recently been shown in some variants of SMA, or in cases of arthrogryposis multiplex congenita. But never, to our knowledge, in isolated congenital club foot, with morcovcr, a very unusual course of thc neurological signs, suggesting a non-coincidental condition.
GP5.7 Dystrophinopathy in a boy with Chidiak-Higashi syndrome Arpad von Moers a, Frank Van Landeghem °, Annemarie Kiehntopff, Eckart Baumgarten", Ronald D.Cohn b, Joachim Bvrgerd, Gisela StoltenburgDidingere
~Department Neuropediatrics, University Children's Hospital, Berlin, ~Department Neuropediatrics, University Children's Hospital, Essen, "Department of Hematology, University Children's Hospital, Berlin, dh~stitute of Human Geneticw, Berlin, elnstitute (~/Neuropathology, Berlin, Germany
Abstracts"
first decade but not at birth. A report of congenital AD DSMA had neurogenic EMG and muscle biopsy, however NCS were not reported and weakness was not progressive (Lugaresi, 1966). AD neurogenic arthrogryposis is not progressive which differentiates this from SMA (Fleury, 1985; Hall, 1982). This may be the first case of well documented congenital AD DSMA with progression.
the regenerative effort is high even in severely affected dystrophic muscle and the immunohistochemistry with Leu-19 is a suitable method to recognize the regenerating muscle fibers in different muscle diseases.
Keywords: Distal spinal muscular atrophy; Autosomal dominant; Conge-
GP5.5 Persistent motor neuron discharges of central origin aggravated by alcohol M. A1-Jumah ~, G. Elleker b, H. Brookesb
nital
GP5.3 Macro-EMG in carriers of Duchenne muscular dystrophy E. Szmidt-Salkowska, K. Rowinska-Marcinska, I. Hausmanowa-Petmsewicz
Department of Neurology, Warsaw Medical School, Neuromuscular Unit, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland The aim of our study was to analyse possible myopathic changes in the muscles in manifesting carriers of Duchenne muscular dystrophy (DMD) using quantitative EMG (mainly macroEMG). Our material consisted of 10 manifesting Duchenne carriers aged 9-52 (mean 30 years old) and 20 healthy age-matched females. Seven carriers were mothers of affected boys with DMD, 1 was their sister, 1 was a daughter of patient with Becket muscular dystrophy, 1 was a sporadic case. In all examined carriers increased serum CK level and mosaic configuration of dystrophin in muscle biopsy was observed. Concentric needle EMGs were performed in biceps brachii and rectus femoris muscles, macroEMG in biceps brachii in groups of carriers and in controls. Duration, amplitude, area, polyphasity of MUPs and interference pattern using CNEMG, amplitude, area of macro potentials and fiber density were estimated. Concentric needle EMG revealed in 5 of 10 manifesting carriers increased number of polyphasic potentials, in 4 of 10 cases decreased value of area of CNMUPs, reduced duration of MUPs in 1 case. MacroEMG revealed in 7 carriers so-called "myopathic" changes. Median amplitude and area of macro potentials showed a reduced value compared to controls (88 /zV and 262 /zV ms, respectively to 160 ~V and 410 IzV ms) in a group of carriers. Fiber density was within normal values in both groups. MacroEMG is sensitive electrophysiological method revealed myogenic changes in the muscle in carriers of DMD. Additionally, reflex generally in many muscles shows pathological changes, in contrast to dystophin expression which differs in various fibres and muscles in DMD carriers.
Keywords: Concentric needle EMG; MacroEMG; Carriers of DMD
GP5.4 Study of muscle regeneration in muscular dystrophies F. Mechler, J.M. Molnar
Department of Neurology, UniversiO~ Med. School of Debrecen, H-4012 Debrecen, Hungary Insufficient regenerative capacity might be the cause of muscle fiber necrosis in muscular dystrophy. Desmin is highly represented in regenerative muscle fibers and they express neutral cell adhesion molecules (NCAM), too. In this study the histological signs of regeneration were investigated in different types of muscular dystrophy. The percentage of desmin and Leu- 19 positive muscle fibers was determined immunohistochemically in 9 patients with dystrophinopathies, 9 patients with other types of muscular dystrophy and 7 patients with nearogenic muscle diseases. In 7 cases double biopsy was performed involving one moderately and one severely affected muscle. The Mann-Whitney U-test was used for statistical evaluation. The percentage of desmin and Leu-19 positive fibers was significantly higher in muscular dystrophies than in neurogenic atrophies and severely affected muscles showed higher percentage of regenerating fibers than less affected ones. Leu-19 was found to be more sensitive than desrain in recognising the regenerating muscle fibers. Our results suggest that
Keywords: Muscular dystrophy; Muscle regeneration; Immunohistochemistry
~King Fahad National Guard Hospital. Riyadh, Saudi Arabia, bUniversiO, of Alberta, Edmonton, Canada Neurological disorders with persistent motor unit discharges at rest may be divided into two categories, i.e., those of peripheral origin like Isaccs-Merten's and Shwartz-Jampel's syndromes and those of central origin such as stiff-man syndrome. We describe a 30-year-old woman with a 6-year history of intermittent spasms of both legs. She described painful, rigid 'tightening' of her calves and posterior thigh muscles with difficulties in movements and walking. Her symptoms were aggravated by alcohol ingestion and extensive exercise. Her examination was normal apart from bilateral calf muscle hypertrophy. Except for persistent motor unit discharges at rest both NCS and EMG demonstrated no abnormalities. These discharges disappeared following spinal anesthesia and peripheral nerve block pointing to their central origin. She demonstrated a good response to low dose Baclofen. Our case is different from patients with the stiff-man syndrome in both the distribution or muscle involvement and the good response to GABA derivative Baclofen. We have found a single similar case in the literature. A video recording of patient EMG at rest, pre and post spinal anesthesia and peripheral nerve block will be shown and the ways to differentiate between these syndromes will be discussed.
Keywords: Motor unit discharges; Stiff-man; Baclofen GP5.6 Congenital club foot with survival motor neuron gene deletion B. Echenne, F. Rivier, A. Roubertie, V. Humbertclaude
Service de Neuropediatrie, HF)pital Saint-EIoi, 34295 Montpellier, France A boy, born after an uneventful pregnancy, had a non-reducible bilateral congenital talipes equinovarus, with marked amyotrophy of both legs. The dizygotic twin brother was normal. This severe congenital club foot was surgically treated at 6 months of age. The motor milestones were then delayed; he walked without support at 2 years. He had generalized hypotonia and areflexia, with waddling gait and proximal muscular weakness. A myopathy was suspected but the CK was normal, and neurogenic changes were found on EMG and on muscular biopsy. The condition remained stable until he was 8 years old. Thereafter, a slow worsening was observed, with increased waddling gait, Gower's sign, and abnormal tiredness, leading to a typical aspect of myopathy. The EMG however, remained neurogenic, and a homozygous deletion of exon 7 of the SMN gene was found, leading to the diagnosis of SMA. Deletions of the SMN gene have recently been shown in some variants of SMA, or in cases of arthrogryposis multiplex congenita. But never, to our knowledge, in isolated congenital club foot, with morcovcr, a very unusual course of thc neurological signs, suggesting a non-coincidental condition.
GP5.7 Dystrophinopathy in a boy with Chidiak-Higashi syndrome Arpad von Moers a, Frank Van Landeghem °, Annemarie Kiehntopff, Eckart Baumgarten", Ronald D.Cohn b, Joachim Bvrgerd, Gisela StoltenburgDidingere
~Department Neuropediatrics, University Children's Hospital, Berlin, ~Department Neuropediatrics, University Children's Hospital, Essen, "Department of Hematology, University Children's Hospital, Berlin, dh~stitute of Human Geneticw, Berlin, elnstitute (~/Neuropathology, Berlin, Germany