Search results for "Muscle disorder"
showing 9 items of 9 documents
Autism spectrum disorders in children affected by Duchenne muscular dystrophy
2018
Background Duchenne muscular dystrophy (DMD) is the most frequent and severe form of the dystrophinopathies. The literature shows that about 30-40% of DMD subjects have intellectual disability. In males with Duchenne muscular dystrophy, neuropsychiatric disorders have also been observed: attention deficit disorder and hyperactivity, autism spectrum disorders, and obsessive-compulsive disorder. Duchenne muscular dystrophy is not just a muscle disorder, but also a disease that affects the brain. The aim of the present study was to describe a case series of children with Duchenne muscular dystrophy that have also the presence of autism spectrum disorders (ASDs). They have been assessed by mean…
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
2019
Supplemental Digital Content is available in the text.
MMP-10 Is Required for Efficient Muscle Regeneration in Mouse Models of Injury and Muscular Dystrophy
2013
Abstract Matrix metalloproteinases (MMPs), a family of endopeptidases that are involved in the degradation of extracellular matrix components, have been implicated in skeletal muscle regeneration. Among the MMPs, MMP-2 and MMP-9 are upregulated in Duchenne muscular dystrophy (DMD), a fatal X-linked muscle disorder. However, inhibition or overexpression of specific MMPs in a mouse model of DMD (mdx) has yielded mixed results regarding disease progression, depending on the MMP studied. Here, we have examined the role of MMP-10 in muscle regeneration during injury and muscular dystrophy. We found that skeletal muscle increases MMP-10 protein expression in response to damage (notexin) or diseas…
Mutations in the β-tropomyosin (TPM2) gene – a rare cause of nemaline myopathy
2002
Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the nebulin gene we have detected a number of autosomal recessive mutations. Both autosomal dominant and recessive mutations have been detected in the genes for alpha -actin and alpha -tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal muscle troponin T. As linkage studies had shown that at least one further gene exists for nemaline myopathy, we investigated another tropomyosin gene expressed in skeletal muscle, the beta -tropomyosin 2 gene. Screening 66 unrelated patients, using single strand conformation polymor…
Desmin-related myopathy with mallory body-like inclusions is caused by mutations of the selenoprotein N gene
2004
Desmin-related myopathies (DRMs) are a heterogeneous group of muscle disorders, morphologically defined by intrasarcoplasmic aggregates of desmin. Mutations in the desmin and the alpha-B crystallin genes account for approximately one third of the DRM cases. The genetic basis of the other forms remain unknown, including the early-onset, recessive form with Mallory body-like inclusions (MB-DRMs), first described in five related German patients. Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of c…
Speech treatment in nemaline myopathy: A single-subject experimental study
2020
Abstract Purpose The objective of this work was to verify the efficacy of a treatment based on myofunctional therapy techniques which aimed to improve the tongue strength, precision, and speed of a ten-year-old girl with nemaline myopathy (NM) and the repercussions of this therapy on her speech intelligibility. NM is a rare congenital muscle disorder that causes extreme muscle weakness, especially in the face and neck, as well as severe dysarthria and dysphagia, although this does not affect the nervous system or cognitive development. Method This was a single-subject experimental study which used an interrupted pre- and post-treatment time-series design, and which applied autoregressive in…
Homozygous mutations incaveolin-3cause a severe form of rippling muscle disease
2003
Heterozygous missense mutations in the caveolin-3 gene (CAV3) cause different muscle disorders. Most patients with CAV3 alterations present with rippling muscle disease (RMD) characterized by signs of increased muscle irritability without muscle weakness. In some patients, CAV3 mutations underlie the progressive limb-girdle muscular dystrophy type 1C (LGMD1C). Here, we report two unrelated patients with novel homozygous mutations (L86P and A92T) in CAV3. Both presented with a more severe clinical phenotype than usually seen in RMD. Immunohistochemical and immunoblot analyses of muscle biopsies showed a strong reduction of caveolin-3 in both homozygous RMD patients similar to the findings in…
P.10.18 Common data elements for muscle biopsy reporting
2013
Physicians commonly utilize the muscle biopsy to assist in the diagnosis of neuromuscular diseases. However, there is no current standard for evaluating or reporting on findings, and the resulting variability can impede accurate diagnoses and limit the utility of the muscle biopsy as a tool for clinical care, research, and stratifying patients for clinical trials. The National Institutes of Neurological Disorders and Stroke (NINDS) recently launched a Common Data Element (CDE) in an effort to standardize neuromuscular data collected in clinical reports. For this study, the authors adapted the NINDS Muscle Biopsy CDE to generate a form for prospective muscle biopsy reporting (CDE-R). This fo…
Glucocorticoid-sensitive hereditary inclusion body myositis.
1996
We report a hereditary muscle disorder with features of inclusion body myositis (IBM) in two adult sisters with slowly progressive asymmetrical muscle weakness. The findings of light microscopic and ultrastructural investigations of muscle biopsy specimens were consistent with a diagnosis of IBM. Both patients improved and stabilized on immunosuppressive treatment with corticosteroids and azathioprine. This differentiates our patients from other sporadic and familial cases of IBM. Clinical and histological features are described and compared with those of other previously reported families with IBM.