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Douglas J. Lanska - One of the best experts on this subject based on the ideXlab platform.
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The Relative Contributions of Duchenne and Trendelenburg to Description of Myopathic Gaits (S15.003)
Neurology, 2016Co-Authors: Douglas J. LanskaAbstract:Objective: To compare the relative contributions of French neurologist Guillaume Benjamin Amand Duchenne and German surgeon Friedrich Trendelenburg to the description of Myopathic Gaits. Background: Both physicians have been credited with describing the Myopathic Gait. Methods: The original reports were reviewed. Results: In 1861, Duchenne gave a classic description of Duchenne dystrophy, and noted that affected individuals walk with “a lateral inclination of the trunk toward the limb which is resting on the ground.” Noting a resemblance to a duck9s Gait, Duchenne added that, “The word ‘waddling’ perfectly expresses this mode of walking.” After Duchenne’s report, the trunkal shift to the side of the stance phase in patients with myopathies has been called a waddling Gait (and later was called a “Trendelenburg lurch.”). In 1895, in children with congenital hip dislocation, Trendelenburg observed that when standing on the affected leg the pelvis tilts downward on the opposite side (Trendelenburg’s sign). He noted in passing that the same phenomenon could occur with muscle disease. With walking, “The pelvis drops toward the walking side [swing phase], and the trunk is sharply bent toward the standing side [stance phase] to restore the balance.” Trendelenburg provided line drawings to illustrate the abnormalities he described, whereas Duchenne did not (for the Gait peculiarities in contrast to abnormalities of stance). Conclusions: Duchenne and Trendelenburg described different and complementary aspects of Myopathic Gaits. The trunkal shift first noted by Duchenne is a compensatory mechanism to maintain balance over the stance leg despite ipsilateral weakness of hip abduction and resultant pelvic tilt. Although Duchenne had priority, the eponymns linked with this Gait refer to Trendelenburg, because Duchenne offered a simple alternative, i.e., a memorable name that visually presented the character of the Gait (waddling Gait), and because he failed to illustrate the Gait description with relevant illustrations. Disclosure: Dr. Lanska received personal compensation in an editorial capacity for Medlink Neurology and Elsevier.
Portela, Mariana Gouveia Sanches Da Silva - One of the best experts on this subject based on the ideXlab platform.
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Avaliação clínica, laboratorial e anatomopatológica de doentes com mutações RyR1
2017Co-Authors: Portela, Mariana Gouveia Sanches Da SilvaAbstract:Trabalho de Projeto do Mestrado Integrado em Medicina apresentado à Faculdade de MedicinaIntrodução: O receptor da rianodina tipo 1 (RyR1) é um canal iónico intracelular, localizado no músculo cardíaco e no músculo esquelético, que tem um papel importante no acoplamento excitação-contração. Mutações no gene do RyR1 são responsáveis por várias doenças musculares debilitantes e/ou ameaçadoras da vida: doença de central core, susceptibilidade à hipertermia maligna, miopatia multiminicore e miopatia centronuclear. O seu diagnóstico é sugerido por uma sintomatologia clínica própria e características patológicas “específicas” e confirmado por um resultado molecular positivo.Objectivos: Apresentar os resultados clínicos, laboratoriais, anatomopatológicos e genéticos de um grupo de doentes com mutações no gene RyR1 seguidos na Unidade de Doenças Neuromusculares do Serviço de Neurologia do Centro Hospitalar e Universitário de Coimbra.Material e métodos: Os processos clínicos de doentes com mutações patogénicas confirmadas do gene RyR1 foram revistos e os dados demográficos, históricos e clínicos foram registados. A força muscular da região cervical, membros superiores e inferiores foi graduada de acordo com a escala MRC. A manobra de Gowers foi realizada em todos os doentes. A creatina cinase sérica, a capacidade vital forçada e a electromiografia foram também analisados. Estavam disponíveis quatro biópsias musculares.Resultados: Foram incluídos sete doentes, três do sexo feminino e quatro do sexo masculino, pertencentes a cinco famílias não relacionadas entre si. Não havia história de consanguinidade familiar. A média das idades actuais é de 41,28 anos, os sintomas começaram maioritariamente na primeira década de vida e a doença foi lentamente progressiva. Todos os doentes têm marcha independente, três manifestaram um atraso na aquisição das competências motoras e dois destes apresentam uma marcha anormal e miopática. Um doente é assintomático. Os restantes seis apresentam fraqueza muscular proximal (três doentes), generalizada (dois doentes) ou nos membros inferiores (um doente). O valor médio de CK foi de 1111.25 U/L. As biópsias musculares mostraram características morfológicas compatíveis com doença de central core (dois doentes), miopatia multiminicore (um doente) e miopatia centronuclear (um doente). Todos os doentes tinham um estudo genético que confirmava a existência de uma mutação patogénica no gene RyR1. As mutações estavam agrupadas no Hotspot 1 ou 3. Cinco doentes tinham uma mutação heterozigótica e dois eram heterozigóticos compostos.Conclusão: O nosso estudo evidencia que as miopatias relacionadas com o gene RyR1 são muito heterogéneas. Também foi reconhecido que uma única mutação pode estar associada a mais do que uma doença. Uma nova mutação não descrita na literatura foi identificada. As características clínicas, anatomopatológicas e moleculares são essenciais para se compreender melhor a correlação genótipo-fenótipo.Introduction: The ryanodine receptor type 1 (RyR1) is an intracellular ion channel present in both cardiac and skeletal muscle and has an important role in the excitation-contraction coupling. Mutations in the RyR1 gene underlie several debilitating and/or life threatening muscle conditions: central core disease, susceptibility to malignant hyperthermia, multiminicore disease and centronuclear myopathy. Their diagnosis was suggested by an appropriate clinical symptomatology, “specific” pathological findings and confirmed by a positive molecular result.Objectives: To describe the clinical, laboratory, anatomopathological and genetic findings of a group of patients with RyR1 gene mutations followed at the Neuromuscular Disease Unit of the Neurology Department of Coimbra’s University and Hospital Centre.Material and Methods: The medical files of patients with confirmed pathogenic RyR1 gene mutations were reviewed for demographic, historical and clinical data. Muscle strength of the cervical, upper and lower limbs was graduated according to the MRC scale. The Gowers’ Manoeuver was performed on each patient. Serum creatine kinase, forced vital capacity and electromyography were also analysed. Four muscle biopsies were available.Results: Seven patients, three females and four males, from five unrelated families were included. There was no familial consanguinity. The actual mean age is 41,28 years, the symptoms began mainly in the first decade of life and the disease was slowly progressive. All patients have independent ambulation, with three of them reporting delayed attainment of motor skills and two of these presented an abnormal, Myopathic Gait. One patient is asymptomatic. Muscle weakness, either proximal (three patients), global (two patients) or in the lower limbs (one patient) was evident in the other six patients. The mean CK value was 1111.25 U/L. The muscular biopsies showed morphologic findings compatible with central core disease (two patients), multiminicore disease (one patient) and centronuclear disease (one patient). All patients had a molecular study confirming a pathogenic mutation in the RyR1 gene. The mutations were clustered in hotspot 1 or 3. Five patients had one heterozygous mutation and two patients were compound heterozygous.Conclusions: Our study provides further evidence that RyR1 related myopathies are very heterogeneous. It was also recognised that one single mutation may be associated with more than one disease. A new pathogenic mutation was identified. Clinical, histopathological and molecular features are essential to better understand genotype-phenotype correlation
Werneck, Lineu Cesar 1941- - One of the best experts on this subject based on the ideXlab platform.
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Distrofia muscular de cinturas : análise clínica, laboratorial, eletromiográfica, histopatológica, imunohistoquímica e por Western Blot de 56 casos
2003Co-Authors: Comerlato, Enio Alberto, Werneck, Lineu Cesar 1941-Abstract:Orientador : Lineu César WerneckTese(doutorado) - Universidade Federal do Paraná, Setor de Ciencias da Saúde, Curso de Pós-Graduaçao em Medicina Interna. Defesa: Curitiba, 2003Inclui bibliografiaÁrea de concentraçao: Medicina InternaResumo: A distrofia muscular de cintura (DMC) representa um grupo clinico e geneticamente heterogêneo de doenças musculares degenerativas de herança autossômica dominante e recessiva, classificadas geneticamente. Com o objetivo de melhorar a abordagem diagnostica, 56 pacientes com diagnostico sugestivo de DMC, 32 masculinos e 24 femininos, submeteram-se a avaliação clinica, laboratorial, eletromiografica, histopatologica e imuno-histoquimica. A idade de inicio dos sintomas variou entre 7 meses e 56 anos. Na apresentação dos sintomas, houve o comprometimento da musculatura dos membros inferiores em 37 casos, dos membros superiores em 12 e ambos em 7. Observou-se atrofia da cintura escapular em 37 casos e da pélvica em 30. Apenas 5 pacientes tiveram hipertrofia de panturrilhas. A fraqueza da musculatura proximal dos membros superiores e inferiores, a marcha miopatica e a manobra de Gowers foram observadas na maioria dos casos. A perda da marcha ocorreu em 5 casos. Houve elevação importante dos níveis séricos de creatinaquinase (CK) em 21 casos. A eletromiografia (EMG) e a biopsia muscular apresentaram padrão miopatico na maioria dos casos. A analise da distrofina foi normal em todas as biopsias musculares. A presença isolada do padrão neurogênico na biopsia muscular não serviu como critério de exclusão. Houve deficiência de a-sarcoglicano em 14, de 3-sarcoglicano em 10, de Y-sarcoglicano em 11, de o- sarcoglicano em 13, de disferlina em 8 e de calpaina-3 em 5 casos. A deficiência na imunoidentificação das proteínas a, p, y e o-sarcoglicano permitiu classificar os casos no grupo das sarcoglicanopatias; de y-sarcoglicano, como ysarcoglicanopatia; de disferlina, como disferlinopatia, e de calpaina-3, como calpainopatia. Os casos de sarcoglicanopatias foram mais frequentes, seguidos da disferlinopatia e da calpainopatia. A hipertrofia de panturrilhas ocorreu apenas no grupo com deficiência do complexo SG. Os casos com deficiência de calpaina-3 ocorreram mais no sexo masculino, tiveram inicio mais precoce e houve maior comprometimento da forca muscular. Os casos com deficiência de disferlina ocorreram mais no sexo feminino e tiveram inicio mais tardio em relação a calpainopatia e as sarcoglicanopatias.Abstract: The limb-girdle muscle dystrophy represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A heterogeneous group of 56 six patients, 32 males and 24 females, with suggestive LGMD diagnosis was clinical, laboratory, electromyography, muscle biopsy and immunohistochemical evaluated to make a diagnostic approach. The onset ranged from 7 month to 57 years. The symptoms onsets were present by lower limbs in 37 cases, 12 in the upper and 7 in both. Scapular girdle atrophy was observed in 37 cases and pelvic in 30. Only 5 patients had calf hypertrophy. The weakness of proximal upper and lowers muscles, the Myopathic Gait and the Gowers sing was observed in most of cases. The loss of ambulation was observed only in 5. Very high CK serum levels occurred in 21. The electromyography and muscle biopsy showed Myopathic pattern in most of cases. An isolated neurogenic pattern in the muscular biopsy doesn't exclude the diagnosis. The dystrophin was normal in all muscle biopsy. Deficiency of a-sarcoglycan was observed in 14, to 3- sarcoglycan in 10, to ysarcoglycan in 11, to 5- sarcoglycan in 13, dysferlin in 8 e calpain-3 in 5 cases. The cases with deficiency of tx, 3, y and 8-sarcoglycan were classified on to sarcoglycan group, y-sarcoglycan deficiency as y-sarcoglycanopathy, dysferlin deficiency as dysferlinopathy and calpain-3 deficiency as calpainopathy. The sarcoglycan deficiency group was more frequent, followed by the dysferlin and calpain-3 groups. Only the sarcoglycan deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later then sarcoglican and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and more muscular weakness
P J Tyrrell - One of the best experts on this subject based on the ideXlab platform.
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Apraxia ofGait orhigher level Gaitdisorders: review and description oftwocasesofprogressive Gaitdisturbance duetofrontal lobedegeneration
1994Co-Authors: P J TyrrellAbstract:Walking difficulties areamajor causeofhandicap and distress, andareparticularly commoninelderly people', accounting forsignificant morbidity and mortality2. Neurological disease isfrequently to blame. Whilst manycausesofimpaired walking areeasily recognized, forexample those associated withspastic paraparesis, Parkinson's disease or proprioceptive sensory loss, aproportion (20%inone series)3 haveaGait disorder variously described as frontal Gaitdisorder orGaitapraxia. Therequirements fornormal walking havebeen described inarecent review byNuttandcolleagues ofhumanGaitdisorders4. Theseconsist offirst, equilibrium, thecapacity tomaintain theupright posture andtomaintain balance, and,secondly, locomotion, theability toinitiate andtomaintain rhythmic stepping. Non-neurological factors include themechanical support system (bones andjoints) and general health (cardiorespiratory fitness). Using Hughling's Jackson's hierarchy oflowest, middle and highest sensorimotor levels, Nuttprovides ahelpful classification ofGait abnormalities. Lowest level Gait disorders include peripheral skeletomuscular problems (arthritic Gait, Myopathic Gait, peripheral neuropathic Gait) andperipheral sensory problems (sensory, vestibular orvisual ataxic Gait). Middle level Gait disorders include hemiplegic andparaplegic Gait, cerebellar ataxic andParkinsonian Gait. Thepresent review isconcerned withabnormalities ofGait dueto highest level sensorimotor disorders whichNutt classifies ascautious Gait, subcortical disequilibrium, frontal disequilibrium, isolated Gaitignition failure andfrontal Gait disorder. Traditionally, termssuch asGait apraxia andfrontal Gait disorder havebeen usedtodescribe these walking abnormalities, often affecting theelderly, whichmay bedifficult to recognize andyetmaybeacauseofserious disability. Forthesakeofclarity, theterm'Gait apraxia' will beusedinthisreview, butinterested readers are recommended toNuttandcolleagues' paperfora morecomplete description ofthetypes ofhigher Gait disorder. Apraxia hasbeendefined5 asthe inability toperform certain subjectively purposive movements ormovementcomplexes withconservation of motility, ofsensation andofcoordination,
Comerlato, Enio Alberto - One of the best experts on this subject based on the ideXlab platform.
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Distrofia muscular de cinturas : análise clínica, laboratorial, eletromiográfica, histopatológica, imunohistoquímica e por Western Blot de 56 casos
2003Co-Authors: Comerlato, Enio Alberto, Werneck, Lineu Cesar 1941-Abstract:Orientador : Lineu César WerneckTese(doutorado) - Universidade Federal do Paraná, Setor de Ciencias da Saúde, Curso de Pós-Graduaçao em Medicina Interna. Defesa: Curitiba, 2003Inclui bibliografiaÁrea de concentraçao: Medicina InternaResumo: A distrofia muscular de cintura (DMC) representa um grupo clinico e geneticamente heterogêneo de doenças musculares degenerativas de herança autossômica dominante e recessiva, classificadas geneticamente. Com o objetivo de melhorar a abordagem diagnostica, 56 pacientes com diagnostico sugestivo de DMC, 32 masculinos e 24 femininos, submeteram-se a avaliação clinica, laboratorial, eletromiografica, histopatologica e imuno-histoquimica. A idade de inicio dos sintomas variou entre 7 meses e 56 anos. Na apresentação dos sintomas, houve o comprometimento da musculatura dos membros inferiores em 37 casos, dos membros superiores em 12 e ambos em 7. Observou-se atrofia da cintura escapular em 37 casos e da pélvica em 30. Apenas 5 pacientes tiveram hipertrofia de panturrilhas. A fraqueza da musculatura proximal dos membros superiores e inferiores, a marcha miopatica e a manobra de Gowers foram observadas na maioria dos casos. A perda da marcha ocorreu em 5 casos. Houve elevação importante dos níveis séricos de creatinaquinase (CK) em 21 casos. A eletromiografia (EMG) e a biopsia muscular apresentaram padrão miopatico na maioria dos casos. A analise da distrofina foi normal em todas as biopsias musculares. A presença isolada do padrão neurogênico na biopsia muscular não serviu como critério de exclusão. Houve deficiência de a-sarcoglicano em 14, de 3-sarcoglicano em 10, de Y-sarcoglicano em 11, de o- sarcoglicano em 13, de disferlina em 8 e de calpaina-3 em 5 casos. A deficiência na imunoidentificação das proteínas a, p, y e o-sarcoglicano permitiu classificar os casos no grupo das sarcoglicanopatias; de y-sarcoglicano, como ysarcoglicanopatia; de disferlina, como disferlinopatia, e de calpaina-3, como calpainopatia. Os casos de sarcoglicanopatias foram mais frequentes, seguidos da disferlinopatia e da calpainopatia. A hipertrofia de panturrilhas ocorreu apenas no grupo com deficiência do complexo SG. Os casos com deficiência de calpaina-3 ocorreram mais no sexo masculino, tiveram inicio mais precoce e houve maior comprometimento da forca muscular. Os casos com deficiência de disferlina ocorreram mais no sexo feminino e tiveram inicio mais tardio em relação a calpainopatia e as sarcoglicanopatias.Abstract: The limb-girdle muscle dystrophy represents a heterogeneous group of muscular diseases with dominant and recessive inheritance, individualized by gene mutation. A heterogeneous group of 56 six patients, 32 males and 24 females, with suggestive LGMD diagnosis was clinical, laboratory, electromyography, muscle biopsy and immunohistochemical evaluated to make a diagnostic approach. The onset ranged from 7 month to 57 years. The symptoms onsets were present by lower limbs in 37 cases, 12 in the upper and 7 in both. Scapular girdle atrophy was observed in 37 cases and pelvic in 30. Only 5 patients had calf hypertrophy. The weakness of proximal upper and lowers muscles, the Myopathic Gait and the Gowers sing was observed in most of cases. The loss of ambulation was observed only in 5. Very high CK serum levels occurred in 21. The electromyography and muscle biopsy showed Myopathic pattern in most of cases. An isolated neurogenic pattern in the muscular biopsy doesn't exclude the diagnosis. The dystrophin was normal in all muscle biopsy. Deficiency of a-sarcoglycan was observed in 14, to 3- sarcoglycan in 10, to ysarcoglycan in 11, to 5- sarcoglycan in 13, dysferlin in 8 e calpain-3 in 5 cases. The cases with deficiency of tx, 3, y and 8-sarcoglycan were classified on to sarcoglycan group, y-sarcoglycan deficiency as y-sarcoglycanopathy, dysferlin deficiency as dysferlinopathy and calpain-3 deficiency as calpainopathy. The sarcoglycan deficiency group was more frequent, followed by the dysferlin and calpain-3 groups. Only the sarcoglycan deficiency group showed calf hypertrophy. The dysferlin deficiency group was more frequent in females and the onset was later then sarcoglican and calpain-3 deficiency groups. The calpain-3 deficiency group occurred only in males and showed an earlier onset and more muscular weakness
