Autosomal recessive limb girdle muscular dystrophies 2C-2F represent a family of diseases caused by primary mutations in the sarcoglycan genes. We show that sarcospan, a novel tetraspan-like protein, is also lost in patients with either a complete or partial loss of the sarcoglycans. In particular, sarcospan was absent in a gamma-sarcoglycanopathy patient with normal levels of alpha-, beta- and...

Recently, post-translational modification of proteins has been defined as a new area of focus for muscular dystrophy research by the identification of a group of disease genes that encode known or putative glycosylation enzymes. Walker-Warburg Syndrome (WWS) and muscle-eye-brain disease (MEB) are caused by mutations in two genes involved in O-mannosylation, POMT1 and POMGnT1, respectively. Fuku...

objective a 4-month-old female with osteogenesis imperfecta (oi) type ii was admitted in picu of our center due to severe respiratory distress and fever with a diagnosis of severe pneumonia, and mechanical ventilation was initiated. due to severe hypotonia, ncv and emg were performed, and spinal muscular atrophy (sma) type i was diagnosed.

background: medical shoes are a solution for the construction and performance related to foot problems. people with healthy feet do not require medical shoes. shoes have different designs and heights and are probably produced with different materials depending on the nature of the required correction. ordering medical shoes, like medicine, is personal for each individual. however, today many co...

congenital muscular dystrophy (cmd)  is an umbrella term collecting a heterogeneous groups of genetic disorders , mostly with autosomal recessive mode of inheritance , and are characterized by muscle weakness since birth or in early infancy , with a dystrophic pattern on muscle biopsy . these children are usually hypotonic and may have joint contractures . the serum creatine kinase level can be...

Mutations in the gene encoding fukutin-related protein (FKRP) cause a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation. Although these diseases are associated with abnormal dystroglycan processing, the cellular consequences of the idi...

Objective. This study aimed to determine whether [F]fluorodeoxyglucose-PET/CT ([F]FDG-PET/CT) discriminates PM/DM from non-muscular diseases and also whether FDG uptake in proximal muscles reflects the activity and severity of muscular inflammation in PM/DM. Methods. Twenty treatment-naı̈ve PM/DM patients who underwent [F]FDG-PET/CT were retrospectively identified by reviewing medical records. T...

The muscular dystrophies are a group of genetically and phenotypically heterogeneously inherited diseases characterized by progressive muscle wasting, which can lead to premature death in severe forms such as Duchenne muscular dystrophy (DMD). In many cases they are caused by the absence of proteins that are critical components of the dystrophin-glycoprotein complex, which links the cytoskeleto...

OBJECTIVE: To discuss the most important aspects for the performance of a differential diagnosis among the main neuromuscular disorders in children, which include diseases affecting the motor unity, i.e. spinal motor neurons, peripheral nerves, neuromuscular junction and muscular fibers. SOURCES: The review of the clinical aspects that should be considered for a prompt differential diagnosis am...

A 29-year-old man was hospitalized because of heart failure causing dilated cardiomyopathy (DCM). On admission, he had elevated creatinine kinase levels (hyper CKemia) (4283IUl⁻) and false enlargement of bilateral calves. By a muscular biopsy, he was diagnosed as Fukuyama-type muscular dystrophy. Although neuromuscular diseases are often related to cardiomyopathy, reports showing a relation bet...