Limb girdle muscular dystrophies are heterogeneous autosomal hereditary neuromuscular disorders. They produce dystrophic changes on muscle biopsy and they are associated with mutations in several genes involved in muscular structure and function. Detailed clinical, laboratorial, imaging, diagnostic flowchart, photographs, tables, and illustrated diagrams are presented for the differential diagn...

A cause of limited physical activity levels in youth is the presence of low back pain (LBP), therefore proper assessment of low back function in physical education settings is needed to identify children who may be at risk. The purpose of this study was to determine the concurrent and criterion-referenced validity of field tests of low back and core muscular endurance in school-aged children. T...

BACKGROUND Cancer survivors experience muscular weakness and reduced mobility, thereby compromising quality of life. This investigation utilized moderate prescriptive exercise to improve upper- and lower-body muscular fitness, flexibility, depression and quality of life in cancer patients. PATIENTS AND METHODS One hundred and thirty-five breast and prostate cancer survivors received cancer an...

Myofibril stability is required for normal muscle function and maintenance. Mutations that disrupt myofibril stability result in individuals who develop progressive muscle wasting, or muscular dystrophy, and premature mortality. Here we present our investigations of the Drosophila l(2)thin [l(2)tn] mutant. The "thin" phenotype exhibits features of the human muscular disease phenotype in that tn...

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...

OBJECTIVE To determine upper limb function and associated factors in adults with Duchenne muscular dystrophy. DESIGN Cross-sectional study. SUBJECTS A sample of 70 men with Duchenne muscular dystrophy (age range 20-43 years). METHODS General motor function and, in particular, upper limb distal motor function, were assessed with the Motor Function Measure. Muscle strength and range of moti...

AIM The paralysis of the ramus marginalis mandibulae nervus facialis may occur in Hemifacial Microsomia (HM); the combination of both HM and palsy contributes to an elongation of the mandibular body. This study explores a possible correlation between neurological deficit, muscular atony, and structural deficiency. STUDY DESIGN Of 58 patients with HM who had come to the University of Rome (Sap...

Motoneuron diseases cause paralysis and death due to loss of motoneurons that innervate skeletal muscle. Spinal muscular atrophy is a human motoneuron disease that is genetically linked to the survival motor neuron gene (SMN). Although SMN was identified more than a decade ago, it remains unclear how decreased levels of the SMN protein cause spinal muscular atrophy. The use of animal models, ho...