Severe neonatal nemaline myopathy with delayed maturation of muscle

Wada, Hiroyoshi; Nishio, Hisahide; Kugo, Masaaki; Waku, Shozo; Ikeda, Kazushige; Takada, Satoshi; Murakami, Ryusuke; Itoh, Hiroshi; Matsuo, Masafumi; Nakamura, Hajime

doi:10.1016/0387-7604(95)00131-x

Cited by 11 publications

(9 citation statements)

References 10 publications

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“…In most of the cases there were no antenatal signs or only clinical signs (diminished fetal movements during the last trimester) [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]. Recent cases described ultrasonographic signs: reduced fetal movements and polyhydramnios [22][23][24][25]; severe polyhydramnios, absent fetal body and limb movements, inability to visualize the stomach and arthrogryposis of hands and feet [24]; clubfeet re-…”

Section: Discussionmentioning

confidence: 99%

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis

Vardon

Chau²,

Sigodi³

et al. 1998

Fetal Diagn Ther

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A new lethal case of nemaline myopathy is reported. The diagnosis was made by postmortem muscle biopsy. The child died before his first day of life. This is one of the very rare cases of nemaline myopathy with severe antenatal ultrasonographic signs: fetal hydrops and arthrogryposis. In a review of the literature other cases of the congenital rapidly fatal form are found, some of them with clinical decrease of fetal movements but only few authors report ultrasonographic signs. The diagnostic, histopathogenic, genetic and evolutive aspects of this heterogeneous disorder are analyzed. This congenital nonprogressive myopathy is not as benign as previously thought and may be an etiology of the lethal form of arthrogryposis multiplex congenita. The existence of ultrasonographic antenatal signs seems to be a factor of poor prognosis. In spite of recent genetic discoveries, there is at present no specific antenatal diagnosis. Consequently, muscle biopsy in lethal cases is very important to allow a genetic counselling; however, in utero fetal biopsy has never been performed in such cases.

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Section: Discussionmentioning

confidence: 99%

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis

Vardon

Chau²,

Sigodi³

et al. 1998

Fetal Diagn Ther

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“…This gene encodes a component of the thin filaments of the sarcomere, and loss of function mutations in TPM3 have been reported in patients with nemaline myopathy and congenital fiber type disproportion (Laing et al 1995; Clarke et al 2008; Lehtokari et al 2008). Interestingly, diaphragm hypoplasia is a recognized complication of severe nemaline myopathy (Wada et al 1996; Danhaive et al 2007). However, in patients with TPM3 loss of function mutations, the diameter of the type I slow fibers is reduced, as TPM3 encodes the slow isoform of skeletal muscle α-tropomyosin (Lehtokari et al 2008).…”

Section: Discussionmentioning

confidence: 99%

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

et al. 2009

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“… Fetal movement count plotted on the reference value for ‘modified count to 10’ 7 . A dot indicates the median ‘modified count to 10’ times (minutes) for each gestational week (28–37th week).…”

Section: Casementioning

confidence: 99%

“…This subtype of NM is classified into a fetal akinesia deformation sequence. Although some reports have indicated that pregnant women bearing fetuses with NM had DFM, it was in a retrograde manner 6–8 . One report, 9 in a case series, described the antenatal diagnosis of NM as early as 22 weeks of gestation; however, a detailed description of fetal movement was lacking.…”

Section: Introductionmentioning

confidence: 99%

Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: The possible merit of fetal movement count

Kuwata¹,

Matsubara²,

Ohkusa³

et al. 2011

J of Obstet and Gynaecol

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We highlight the merit of fetal movement count to identify a fetus with neuromuscular disorder: nemaline myopathy. A 38-year-old 1-para woman not in a consanguineous marriage had decreased fetal movement. This, together with increased amniotic fluid volume, led us to perform detailed ultrasound examinations, which revealed stretch contracture of the knee joints, leading us to suspect fetal neuromuscular disorders. At 38(2/7), she gave birth vaginally to a 2444 g female infant. Her respiration was very weak, requiring respiratory support. Contractures of the upper/lower extremity joints and club feet were observed. All skeletal muscles were hypotonic. Biopsized muscle cells showed nemaline bodies, confirming the diagnosis of nemaline myopathy. Fetal movement count may contribute to the identification of fetal neuromuscular diseases, such as nemaline myopathy.

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Severe neonatal nemaline myopathy with delayed maturation of muscle

Cited by 11 publications

References 10 publications

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis

Congenital Rapidly Fatal Form of Nemaline Myopathy with Fetal Hydrops and Arthrogryposis

Examination of FGFRL1 as a candidate gene for diaphragmatic defects at chromosome 4p16.3 shows that Fgfrl1 null mice have reduced expression of Tpm3, sarcomere genes and Lrtm1 in the diaphragm

Decreased fetal movement prompts investigation of prenatal/neonatal nemaline myopathy: The possible merit of fetal movement count

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