Diseases of the myoneural junction and muscle are disabling and some are life-threatening. Recent successes in the identification of the underlying genetic mechanisms have had profound implication for their diagnostics, treatment and classification. We define familial risks for siblings who were hospitalized for or deceased from diseases of the myoneural junction and muscle. A nationwide databa...

In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...

Spinal muscular atrophy (SMA), amyotrophic lateral sclerosis (ALS), and spinal-bulbar muscular atrophy (SBMA) are devastating diseases characterized by the degeneration of motor neurons. Although the molecular causes underlying these diseases differ, recent findings have highlighted the contribution of intrinsic skeletal muscle defects in motor neuron diseases. The use of cell culture and anima...

Wnt/β-catenin (WβC) signaling pathway is an important for the maintenance of cellular homeostasis from embryonic developmental stages to adulthood. The canonical WβC essential neurogenesis, cell proliferation, and whereas noncanonical (WNT/Ca2+ WNT/PCP) responsible polarity, calcium maintenance, migration. Abnormal regulation involved in pathogenesis several neurodegenerative diseases such as A...

In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...

In the last few years there has been an increase in interest among neurologists and geneticists in the spinal muscular atrophies. With the advent of several relatively sophisticated diagnostic procedures many patients once thought to be suffering from muscular dystrophy have in fact been found to have spinal muscular atrophy. The spinal muscular atrophies may be defined as a group of inherited ...

muscle biopsy has been used for a long time for diagnosis of muscular, nerurogenic and systemic disorders with muscle involvement, because only very few of these disorders show sufficient specific clinical features for definite diagnosis. since the presence of difficulties in the screening of numerous genes, muscle biopsy could be a time and cost effective procedure for solving the diagnostic p...

Muscular dystrophies are a heterogeneous group of genetically inherited disorders whose most prominent clinical feature is progressive degeneration of skeletal muscle. In several forms of the disease, the function of cardiac muscle is likewise affected. The primary defect in this group of diseases is caused by mutations in myocyte proteins important to cellular structure and/or performance. Tha...

Splice-modulation therapy, whereby molecular manipulation of premessenger RNA splicing is engineered to yield genetic correction, is a promising novel therapy for genetic diseases of muscle and nerve-the prototypical example being Duchenne muscular dystrophy. Duchenne muscular dystrophy is the most common childhood genetic disease, affecting one in 3500 newborn boys, causing progressive muscle ...

Among the very varied cases of flaccid paralysis it is necessary to recognize a group in which weakness and,muscular wasting are due to diffuse inflammatory changes in muscles. Though a syndrome of polymyositis has been known and described by many authors for nearly a hundred years, renewed interest in it is warranted for two reasons: (1) The frequent association of such muscular disease with s...