Investigations on the Inheritance of Nemaline Myopathy

Arts, W. F. M.; Bethlem, J.; Dingemans, Koerd P.; Eriksson, Aldur W.

doi:10.1001/archneur.1978.00500260010002

Cited by 45 publications

(9 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This case was limited by neither parent having had a formal evaluation to rule out minor muscle weakness nor a muscle biopsy, although the mother underwent molecular testing for ACTA1, which was negative. Pathologic changes of NM have been demonstrated in some asymptomatic parents of affected individuals, reflecting either a manifesting heterozygote for autosomal recessive NM or a subclinical manifestation of autosomal dominant inheritance [Arts et al, 1978; Wallgren-Pettersson The muscle fibers have a blue-green color; no inclusions are present. c The HE stain of the muscle biopsy from the third pregnancy again shows relatively normal fetal muscle.…”

Section: Discussionmentioning

confidence: 99%

Utility of Fetal Muscle Biopsy for Diagnosis of Nemaline Myopathy

et al. 2008

View full text Add to dashboard Cite

Objectives: To report and discuss prenatal diagnosis of nemaline myopathy (NM) using fetal muscle biopsy. Methods: A consanguineous couple, with a history of a child with a clinical diagnosis of NM but no molecular genetic confirmation, was referred for prenatal diagnosis in two subsequent pregnancies. Fetal muscle biopsy with ultrasound guidance was undertaken at 22 and 21 weeks, respectively. Results: Immunohistochemical and ultrastructural analysis of the fetal muscle specimen from the first ‘at-risk’ pregnancy was consistent with a diagnosis of NM and that pregnancy was terminated. Analysis of the fetal muscle specimen from the subsequent pregnancy revealed no pathologic abnormality. The pregnancy continued, and the child is unaffected. Conclusion: This represents the first reported prenatal diagnosis of NM by fetal muscle biopsy. Pathologic changes characteristic of NM can be identified in mid-second trimester fetal muscle.

show abstract

Section: Discussionmentioning

confidence: 99%

Utility of Fetal Muscle Biopsy for Diagnosis of Nemaline Myopathy

et al. 2008

View full text Add to dashboard Cite

show abstract

“…The majority of reported cases occur in infants, either as a congenital condition or as a myopathy beginning early in life. However, a number of cases with the typical morphological findings of nemaline myopathy have been reported as an adult-onset myopathy.6,' 1,17,23,32,35 Onset of signs in affected cats varied from 6 months to 1.5 years of age, and the disease can therefore be regarded as having a juvenile to adult onset. In this sense, it resembles the adult-onset form of human nemaline myopathy.…”

Section: Discussionmentioning

confidence: 99%

Nemaline myopathy of cats

et al. 1986

View full text Add to dashboard Cite

An apparently inherited myopathy, characterized by the presence of large numbers of nemaline rods in skeletal muscle fibers, was investigated in five cats. Onset of signs varied from 6 months to 1.5 years of age and consisted of reluctance to move, jerky gait and muscle twitching, hyporeflexia, and muscle wasting, which was most prominent in the proximal muscles of the forelimbs. All of the cats, three males and two females, were from the same dam. In addition to the presence of rods, the myopathy was characterized by marked fiber size variation, with atrophy of type 1 and type 2a muscle fibers. In addition, there was infolding of the sarcolemma and fiber splitting. Ultrastructurally, the rods closely resembled those described in human nemaline myopathy.

show abstract

“…Nemaline myopathy is generally thought to be a hereditary disease, but the mode of inheritance is heterogenous, either dominant or recessive, with many loci and therefore various disorders [47]. An extensive review of 50 reported pedigrees of nemaline myopathy families including asymptomatic family members whose biopsied muscles demonstrated nemaline bodies, suggested that inheritance is probably autosomal dominant with reduced penetrance (NEM1) [48].…”

mentioning

confidence: 99%

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

Vardon

Chau²,

Sigodi³

et al. 1998

Fetal Diagn Ther

View full text Add to dashboard Cite

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.

show abstract

Investigations on the Inheritance of Nemaline Myopathy

Cited by 45 publications

References 14 publications

Utility of Fetal Muscle Biopsy for Diagnosis of Nemaline Myopathy

Utility of Fetal Muscle Biopsy for Diagnosis of Nemaline Myopathy

Nemaline myopathy of cats

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

Contact Info

Product

Resources

About