abstract bachground: the main objective of this study was to define the clinical changes of facial deformity in patients older than 5 years with congenital torticollis treated by proximal and distal sternocleidomastoid tenotomy. methods: we retrospectively evaluated fifteen patients who had had an open tenotomy of the sternal and clavicular and mastoid origins of the sternocleidomastoid muscle ...

A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303 patients, aged 6–62 years. Seventy-two patients had Duchenne muscular dystrophy, 32 Becker muscular dystrophy, 30 limb-girdle muscular dystrophy, 39 facio-scapulo-humeral dystrophy, 29 myotonic dystrophy, 21 congenital myopathy, 10 congenital muscular dystrophy, 35 spinal ...

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...

Muscular dystrophies are part of a group of degenerative diseases of the muscular system, which are characterized by muscle degeneration and structural changes at the neuromuscular junction. The most common form is Duchenne Muscular Dystrophy (DMD) (Whitehead et al., 2006), which affects approximately 1 in every 3500 live births (Balaban et al., 2005; Judge et al., 2005; Withehead et al., 2006;...

Several forms of inherited muscular dystrophy are associated with brain abnormalities and cognitive impairment. One of the most common and severe of these diseases is Duchenne muscular dystrophy (DMD). Dystrophin, the product of the DMD gene, is found in neurones, where it is associated with the postsynaptic membrane. Cognitive impairment in individuals with DMD is thought to be due to an abnor...

The class of muscular dystrophies linked to the genetic ablation or mutation of dysferlin, including Limb Girdle Muscular Dystrophy 2B (LGMD2B) and Miyoshi Myopathy (MM), are late-onset degenerative diseases. In lieu of a genetic cure, treatments to prevent or slow the progression of dysferlinopathy are of the utmost importance. Recent advances in the study of dysferlinopathy have highlighted t...

Muscular dystrophies are a heterogeneous group of inherited diseases with different molecular basss, but sharing similar clinical features and dystrophic changes.

OBJECTIVES To explore the extent to which muscular strength in adolescence is associated with all cause and cause specific premature mortality (<55 years). DESIGN Prospective cohort study. SETTING Sweden. PARTICIPANTS 1,142,599 Swedish male adolescents aged 16-19 years were followed over a period of 24 years. MAIN OUTCOME MEASURES Baseline examinations included knee extension, handgrip,...