X‐linked myotubular myopathy with fatal neonatal asphyxia

Barth, P. G.; Wijngaarden, G.K. van; Bethlem, J.

doi:10.1212/wnl.25.6.531

Cited by 90 publications

(22 citation statements)

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“…Male patients may al ready be affected at birth [Barth et al, 1975] and others in old age [Harriman and Ilaleem, 1972], It may follow autosomal dominant [Mortier et al, 1975;Karpati et al. 1970], autosomal recessive [Sher et al" 1967] or sexlinked [Barth et al, 1975] modes of inheri tance. Our 4 patients' conditions indicate that the disorder may become apparent at any time of the patient's life.…”

Section: Discussionmentioning

confidence: 99%

Centronuclear Myopathy with Special Consideration of the Adult Form

Goebel¹,

Meinck²,

Reinecke³

et al. 1984

Eur Neurol

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We report clinical, electrophysiological, enzyme histochemical and ultrastructural findings in 4 patients afflicted with centronuclear myopathy of adulthood whose disorder emphasizes the broad spectrum of this congenital myopathy including clear ocular ptosis in only one and facio-scapulo-peroneal syndrome in another patient. The morphological criteria for classification are central nuclei and the enzyme histochemical findings in muscle biopsies which did not show any significant progression over many years, more severe involvement of distal muscles in 2 patients and conspicuous presence of intrafascicular fat cells. 1 patient had associated minicores in a familial setting. Although electromyographic data comprised a mixed myopathic-neurogenic pattern, the morphological features in muscle biopsies did not further prove a neurogenic origin of our patients’ neuromuscular disorder.

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Section: Discussionmentioning

confidence: 99%

Centronuclear Myopathy with Special Consideration of the Adult Form

Goebel¹,

Meinck²,

Reinecke³

et al. 1984

Eur Neurol

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“…Of the 58 cases described in the literature the mode of inheritance has been X-linked in two pedigrees Barth et al, 1975), and autosomal dominant in one family over five generations (McLeod et al, 1972). Sporadic cases are described in 11 further reports although in the original description by Spiro et al (1966), there was distant consanguinity.…”

Section: Geneticsmentioning

confidence: 99%

Centronuclear myopathy.

Bill¹,

Cole²,

Proctor³

1979

Journal of Neurology, Neurosurgery & Psychiatry

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The patient (CM), a black girl aged 7 years, is the only child of a non-consanguineous marriage. Pregnancy and delivery were normal. In the early neonatal period, transient jaundice was present. A generalised floppiness was noted soon after birth with reportedly normal limb movements. There were no feeding difficulties and bulbar function appeared to be good. Considerable difficulty in lifting the head, especially when in the prone position, was noted after a few months. She was able to sit unaided at the age of 4 months, but was never able to crawl. She walked at the age of 4 years. The patient was first seen at the age of 4 years 9 months because of increasing difficulty with walking. Increasing difficulty had also been experienced in changing from a lying to a sitting position. Her (Fig. 1). Amarkedgeneralised hypotonia was present. The strength was markedly reduced in the limbs, the upper limbs being slightly weaker than the lower limbs with the proximal muscles being most involved. The neck musculature was diffusely weakened. She was unable to stand from a lying position, could not climb stairs, and walked with a slow waddling gait. Prominent facial weakness resulted in an expressionless appearance. A mild ptosis and proptosis were present. She was unable to raise the eyes, and horizontal upward and downward eye movements were limited to a few degrees. Pupillary reflexes were normal. The masticatory muscles were weakened, and at rest the patient presented an open-mouthed appearance (Fig. 2). The tongue and pharyngeal muscles were normal. The trunk musculature was similarly involved, resulting in an exaggerated lumbar lordosis with protuberant abdomen. Respiration was mainly abdominal. The tendon reflexes were absent and plantar responses flexor. Sensation was normal. Over the vertex of the head there was a patch of white hair.

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“…In muscle samples of severe cases of neonatal myotonic dystrophy (Sarnat and Silbert, 1976) certain morphological features similar to those seen in neonatal cases of recessive sex-linked centronuclear myopathy were found by Barth et al (1975). However, in none of the biopsies taken at a later date in neonatal myotonic dystrophy (Karpati et al, 1973;Farkas et al, 1974) was the morphology of centronuclear myopathy found.…”

Section: Discussionmentioning

confidence: 75%

Myotonia in centronuclear myopathy

Gil-Peralta

Rafel

Bautista

et al. 1978

Journal of Neurology, Neurosurgery & Psychiatry

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SUMMARY Centronuclear myopathy, which is unusual because of clinical myotonia, is described in two sisters. The diagnosis was established in adult life, but the first symptoms were noticed in infancy. The outstanding points of the clinical picture were mild amyotrophy, paresis, and clinical myotonia.Myotubular myopathy (Spiro et al., 1966) is an entity defined by its morphological muscular alterations. The disease displays a notable clinical variability and marked genetic heterogeneity . Usually it is present early in life, and is found only rarely in adults (Vital et al., 1970). Electrical myotonia (Munsat et al., 1969; with accompanying cataract has been described in this disease (Hawkes and Absolon, 1975).We report a family in which two members displayed mild amyotrophy, paresis, and clinical myotonia. Three muscle biopsies performed in two members of the family showed changes typical of centronuclear myopathy. From a clinical point of view, these cases of centronuclear myopathy displayed unusual similarities to myotonic dystrophy. We believe that this is the first report of clinical myotonia in a case of centronuclear myopathy, thus broadening the spectrum of familial muscular diseases accompanied by myotonia, and adding to the masterful classification of Becker (1977). Case reports CASE 1The proband, a 35 year old woman, had poliomyelitis at one year of age that produced amyotrophy and paresis of the right leg. Since then she has always walked and got up from the floor with difficulty. These facts were attributed by the patient to the sequela of poliomyelitis. At

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X‐linked myotubular myopathy with fatal neonatal asphyxia

Cited by 90 publications

References 0 publications

Centronuclear Myopathy with Special Consideration of the Adult Form

Centronuclear Myopathy with Special Consideration of the Adult Form

Centronuclear myopathy.

Myotonia in centronuclear myopathy

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