In Duchenne muscular dystrophy (DMD), dystrophin mutation leads to progressive lethal skeletal muscle degeneration. For unknown reasons, dystrophin deficiency does not recapitulate DMD in mice (mdx), which have mild skeletal muscle defects and potent regenerative capacity. We postulated that human DMD progression is a consequence of loss of functional muscle stem cells (MuSC), and the mild mous...

Impaired exercise capacity is the core symptom of heart failure with preserved ejection fraction (HFpEF). We assessed effects of exercise training and Crataegus extract WS 1442 in HFpEF and aimed to identify mechanisms of action in an exploratory trial (German Clinical Trials Register DRKS00000259). 140 sedentary HFpEF NYHA II patients on standard treatment received eight weeks of aerobic endur...

BACKGROUND AND OBJECTIVES Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic ch...

Ullrich congential muscular dystrophy (UCMD) is a severe form of congenital muscular dystrophy manifesting axial muscle contractures and distal joint hyperlaxity. Severe hypotonia and associated respiratory failure may occur early in the disease process. Given the various associated orthopedic conditions, anesthetic management may be required during surgical interventions to correct skeletal de...

TOUCH MEDICAL MEDIA Duchenne muscular dystrophy (DMD) is an X-linked disorder affecting one in 5,000 live male births which makes it the most common and most severe form of muscular dystrophy. The absence of the protein dystrophin leads to symptom onset typically between the ages of two to five years, with abnormal gait and frequent falls being hallmark signs. Other signs may include delays in ...

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a ...

Pelvic floor (PF) dysfunction is a source of morbidity and negatively affects one’s quality of life [1]. Dysfunction is often associated with muscular weakness and the failure of supporting connective tissue structures, leading in particular to urinary and faecal incontinence, prolapse of the pelvic structures, defecation problems, and sexual difficulties [2,3]. Facing such complaints, many wom...

B ecker muscular dystrophy (BMD) is an X linked mutation of the dystrophin gene characterised by skeletal muscle dystrophy and progressive heart failure which frequently leads to a fatal outcome. Cardiac involvement is not accurately predicted by gene mutation and may occur in patients without muscle weakness. Consequently, systematic cardiac examinations are required. Tissue Doppler echocardio...

A case of progressive muscular dystrophy with cardiac involvement in a young Negro man is reported. The presenting problem was cardiomegaly and congestive heart failure. It was not until compensation was achieved that the underlying myopathy became apparent. Death was unexpected and presumably sudden. An unusual finding at the postmortem examination was the marked thickening of the endocardium....