Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases

Ferreiro, Ana; Estournet, B.; Château, Danielle; Romero, Norma B.; Laroche, Cécile; Odent, Sylvie; Toutain, Annick; Cabello, Ana; Fontan, D; Santos, Heloísa G. dos; Haenggeli, C. A.; Bertini, E.; Urtizberea, Jon Andoni; Guicheney, Pascale; Fardeau, Michel

doi:10.1002/1531-8249(200011)48:5<745::aid-ana8>3.0.co;2-f

Cited by 108 publications

(37 citation statements)

References 55 publications

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“…MmD usually presents as congenital myopathy [2][3][4][5][6][7] rarely as adult-onset disease 12 . As regards the Brazilian literature, Werneck's 13 series of 1500 MB included 47 cases of congenital neuromuscular disorders, of which four were MmD.…”

Section: Discussionmentioning

confidence: 99%

“…In spite of slow progression in most instances, fatal cases of MmD have been described, generally associated with cardiomyopathy 15 . Worse prognosis has also been associated with respiratory insufficiency due to weakness of diaphragm and accessory respiratory muscles and/or thoracic deformities 6 . Respiratory failure occurred in half of the patients of Jungbluth et al 7 aged over 10 years and correlated with the degree of scoliosis.…”

Section: Discussionmentioning

confidence: 99%

“…More than half of the patients of Jungbluth et al 7 have been under general anesthesia uneventfully at least once. In Ferreiro et al 6 series of 38 cases, 19 surgical procedures with general anesthesia were performed in 16 patients, with no abnormal reactions or malignant hyperthermia being recorded in patients or their relatives. In our patients, MB (cases 1 and 2) and cerebral CT scan (case 2) were performed under propofol or isoflurane without problems.…”

Section: Discussionmentioning

confidence: 99%

“…Since then, at least 70 cases were published 1 . The largest multi-institutional series presented 38 patients, leading to identification of four phenotypically homogeneous subgroups 6 .…”

Section: Miopatia Dos Multi-minifocos Revisitadamentioning

confidence: 99%

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Multi-minicore disease revisited

Nucci

Queiroz

Zambelli

et al. 2004

Arq. Neuro-Psiquiatr.

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-Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and proximal limb muscles. Clinical variants also exist. Usually MmD is inherited as an autosomal recessive trait. Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected. We record three unrelated cases of MmD. Case 1, with the classical benign form, was followedup for 15 years. Case 2, presenting pharyngolaryngeal involvement and severe delay of head control, improved gradually, until independent gait was acquired at age of six years. A moderate restriction of daily life activities remains. Case 3, of antenatal-onset, was expressed by arthrogryposis of hands, predominance of scapular girdle deficit and a stable course after ten years on physiotherapy. All cases were selected by the characteristic morphological abnormalities in biceps brachii samples, including electron microscopy. Emphasis is given to case 2 due to type 1 fiber uniformity and mild endomysial fibrosis, posing a difficult differential diagnosis with congenital muscular dystrophy were it not for the significant number of multi-minicores.KEY WORDS: congenital myopathy, multi-minicore disease, phenotype, histochemistry, electron microscopy. Miopatia dos multi-minifocos revisitadaRESUMO -A miopatia dos múltiplos minifocos (MM) é doença congênita rara, definida por alterações estruturais observadas ao microscópio óptico e eletrônico: múltiplas e pequenas áreas sem atividade enzimática oxidativa e desorganização focal das proteínas contráteis envolvendo poucos sarcômeros. A forma clássi-ca da doença se manifesta com hipotonia mais ou menos grave e fraqueza generalizada, predominante em músculos axiais e proximais em membros. Entretanto, variantes clínicas existem. A MM é usualmente herdada como traço autossômico recessivo. Heterogeneidade genética tem sido reconhecida e até o momento mutações nos genes RYR1 e SEPN1 foram detectadas. Relatamos três casos de MM. Caso 1, que tem a forma clássica e benigna da doença, assim permaneceu ao longo de 15 anos. Caso 2 apresentou envolvimento faringo-laríngeo e grave atraso no controle cefálico que melhorou gradualmente, até que a deambulação plena foi adquirida aos seis anos; permanece com moderada limitação das atividades da vida diária. Caso 3 teve início pré-natal, expresso através de artrogripose das mãos. Havia predominância de déficit em cintura escapular e o curso tem sido estável, com fisioterapia, por 10 anos. Os casos foram selecionados pelas características morfológicas na biópsia do biceps braquial que incluiu microscopia eletrônica. Enfatizamos, no caso 2, a uniformidade das fibras do tipo 1 e a leve fibrose do endomísio, tendo sido ne...

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

“…Since then, at least 70 cases were published 1 . The largest multi-institutional series presented 38 patients, leading to identification of four phenotypically homogeneous subgroups 6 .…”

Section: Miopatia Dos Multi-minifocos Revisitadamentioning

confidence: 99%

See 2 more Smart Citations

Multi-minicore disease revisited

Nucci

Queiroz

Zambelli

et al. 2004

Arq. Neuro-Psiquiatr.

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“…Diseases that affect the above-mentioned structures, such as spine dysraphia [24,45], muscle dystrophies [29,30,31,42], congenital myopathies [6,16,21,32,36], spine muscle atrophies [5,11], cerebral palsy [34,39], nonprogressive cerebral lesions [13] and spine cerebellar degenerations [22], are well-known causes of scoliosis.…”

Section: Introductionmentioning

confidence: 99%

Muscle study in experimental scoliosis in rabbits with costotransversectomy: evidence of ischemic process

et al. 2008

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Scoliosis involves the central nervous system diseases, ligaments, articulations and skeletal muscles, but there is no consensus on its pathogeny and progression of muscle abnormalities. In this study, we investigate the morphologic changes in the muscle of rabbit submitted to experimental scoliosis, with special emphasis on abnormalities related to blood supply. We studied 26 rabbits subjected to costotransversectomy by pulling out six transverse processes at thoracic level and six rabbits were used as controls. All the animals operated upon developed scoliosis showing an average angle of 29.1°on the 60th day, with its apices located at T4 and T12 when they were subjected to paraspinal muscle biopsy on both sides. The muscle biopsies were subjected to histological stains and histochemical reactions, as well as to a morphometric study. On the concave side, the changes were not statistically significant regarding the control group. On the convex side conjunctive tissue proliferation, infiltration by adipose tissue, central nucleus excess, inflammatory reaction, segmental fibrosis, type 1 fiber hypertrophy, type 2 fiber hypertrophy and atrophic angular dark fibers in the unspecific esterase were statistically significant. The segmental fibrosis reached a circumscribed muscle segment, compatible with an ischemic phenomenon. The histological diagnoses on the concave side of the animals had unspecific alterations (atrophy and hypertrophy) in 13, myopathy in 3, denervation in 3 and normal in 7. The convex side diagnoses were myopathy in 14, denervation in 8, mixed in 3 and normal in 1. The procedure determined morphologic changes on the convex side indicating possible denervation or myopathy of ischemic origin.

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Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia

Guis¹,

Figarella‐Branger²,

Monnier³

et al. 2004

Arch Neurol

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These results indicate that multiminicore lesions are observed in MHS patients with neither clinical signs related to multiminicore disease nor histological features of congenital myopathies. These multiminicore lesions may be secondary to mutations in the RYR1 gene. As a consequence, these patients must be distinguished from patients with multiminicore disease and from other MHS patients for whom multiminicores are not observed.

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Multi-minicore disease-searching for boundaries: Phenotype analysis of 38 cases

Cited by 108 publications

References 55 publications

Multi-minicore disease revisited

Multi-minicore disease revisited

Muscle study in experimental scoliosis in rabbits with costotransversectomy: evidence of ischemic process

Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia

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