The limb girdle muscular dystrophies are a heterogeneous group of conditions characterized by proximal muscle weakness and disease onset ranging from infancy to adulthood. We report here eight patients from seven unrelated families affected by a novel and relatively mild form of autosomal recessive limb girdle muscular dystrophy (LGMD2) with onset in the first decade of life and characterized b...

Background: The spinal muscular atrophy (SMA) is an autosomal recessive hereditary neuromuscular disease, categorized into 4 types according to the severity. Type 2 considered intermediate form. There are three medication options approved by ANVISA for SMA treatment: Spinraza, Ridisplam and Zolgensma.

Background Muscular dystrophies comprise a heterogeneous group of inherited diseases that are characterized by progressive muscle weakness and degeneration. Severe forms, e.g. Duchenne muscular dystrophy (DMD), which is caused by a mutation in the dystrophin gene, lead to loss of ambulation, respiratory failure, and premature death. In many types of the muscular dystrophies the cardiac muscle i...

background: the pelger-huet anomaly dominantly is a rare and benign inherited defect of terminal neutrophil differentiation. although neutrophil migration may be minimally impaired, granulocytes function is otherwise normal association abnormalities such as ocular, musculoskeletal are reported very rare. case: an eight year-old boy with good consciousness but severe muscular atrophia and diffic...

Pompe's disease (acid maltase deficiency) classically affects infants and children, with a few sporadic cases occurring in adults. An adult patient initially have progressive muscular weakness, exertional dyspnea, diaphragmatic paralysis, and objective evidence of restrictive respiratory disease. Muscle biopsy established the diagnosis of acid maltase deficiency. The patient's brother had died ...

Duchenne muscular dystrophy is the most common and severe form of the childhood muscular dystrophies. The disease is typically diagnosed between 3 and 7 years of age and follows a predictable clinical course marked by progressive skeletal muscle weakness with loss of ambulation by 12 years of age. Death occurs in early adulthood secondary to respiratory or cardiac failure. Becker muscular dystr...

Muscular dystrophy is a progressive disease of muscle weakness, muscle atrophy and cardiac dysfunction. Patients afflicted with muscular dystrophy exhibit autonomic dysfunction along with cognitive impairment, severe depression, sadness, and anxiety. Although the psychological aspects of cardiovascular disorders and stress disorders are well known, the physiological mechanism underlying this re...

Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease severity in the individual patient. In the chronic inflammation that characterizes Duchenne muscle, cytokines and chemokines are considered essential ...