Background An Ankle Foot Orthosis (AFO) is commonly used in clinical practice to assist gait of patients with different pathologies. The flexibility of the AFO depends on different design characteristics while specific mechanical requirements of the AFO are correlated with patient anatomy and pathology. To this day, the correlation between AFO-design and patient pathology is mainly based on the...

congenital myopathies are a clinically and genetically heterogeneous group of inherited muscle disorders characterized clinically by reduced fetal movements, hypotonia, weakness and developmental delay beginning at birth or in the first year of life. however, there can be a wide variation in clinical findings including mild and asymptomatic presentation to a severe form within each subtype with...

INTRODUCTION Muscle stem cells termed satellite cells are essential for muscle regeneration. A central question in many neuromuscular disorders is why satellite cells are unable to prevent progressive muscle wasting. We have analyzed muscle fiber pathology and the satellite cell response in Pompe disease, a metabolic myopathy caused by acid alpha-glucosidase deficiency and lysosomal glycogen ac...

Approaches targeting nitric oxide (NO) signaling show promise as therapies for Duchenne and Becker muscular dystrophies. However, the mechanisms by which NO benefits dystrophin-deficient muscle remain unclear, but may involve nNOSβ, a newly discovered enzymatic source of NO in skeletal muscle. Here we investigate the impact of dystrophin deficiency on nNOSβ and use mdx mice engineered to lack n...

Huntington's disease (HD) is one of the most common non-curable rare diseases and is characterized by choreic movements, psychiatric symptoms, and slowly progressive dementia. HD is inherited as an autosomal dominant disorder with complete penetrance. Although brain pathology has become a hallmark of HD, there is a critical mass of new studies suggesting peripheral tissue pathology as an import...

LARGE is a glycosyltransferase involved in glycosylation of α-dystroglycan (α-DG). Absence of this protein in the LARGEmyd mouse results in α-DG hypoglycosylation, and is associated with central nervous system abnormalities and progressive muscular dystrophy. Up-regulation of LARGE has previously been proposed as a therapy for the secondary dystroglycanopathies: overexpression in cells compensa...

Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia (IBMPFD) is a dominantly inherited degenerative disorder caused by mutations in the valosin-containing protein (VCP) gene. VCP (p97 in mouse, TER94 in Drosophila melanogaster and CDC48 in Saccharomyces cerevisiae) is a highly conserved AAA(+)-ATPase that regulates a wide array of cellular processes. The ...

Oxidative stress has been implicated in the pathology of the lethal skeletal muscle disease Duchenne muscular dystrophy (DMD), and various antioxidants have been investigated as a potential therapy. Recently, treatment of the mdx mouse model for DMD with the antioxidant and cysteine and glutathione (GSH) precursor n-acetylcysteine (NAC) was shown to decrease protein thiol oxidation and improve ...

Muscle biopsy remains an important component of the diagnostic repertoire for patients with suspected mitochondrial disease, underpinning specialist histopathological and biochemical analyses. Raman spectroscopy has not yet been applied to new fibre optic systems, advantages in terms cost portability, could provide a rapid means identify muscle pathology. In this study, we aimed explore potenti...

A skeletal muscle involvement associated with skin, renal and liver pathology has been described in patients with essential mixed cryoglobulinemia. In some cases the muscle atrophy was consequence of a peripheral neuropathy but in such patients the muscle pathology has not been defined. Skin and skeletal muscle biopsies were performed in 6 patients with type II essential mixed cryoglobylinemia....