Polymyositis is an idiopathic inflammatory myopathy of unknown aetiology that affect skeletal muscles causing symmetrical, proximal muscle weakness, and also other internal organs. The investigations reveal elevated skeletal muscle enzyme levels and characteristic electromyography (EMG) and muscle biopsy findings. Pulmonary involvement in polymyositis includes respiratory muscle weakness, aspir...

The diagnosis of Pompe disease in children and adults can be challenging because of the heterogeneous clinical presentation and considerable overlap of signs and symptoms found in other neuromuscular diseases. This review evaluates the use of muscle biopsy and other methods for the diagnosis and differential diagnosis of late-onset Pompe disease. Muscle biopsy is commonly used as an early diagn...

limb girdle muscular dystrophies (lgmds) are group of neuromuscular disorders which are characterized by progressive muscle weakness and they mostly affect the pelvic and shoulder girdle muscles. this disease can be inherited as autosomal dominant (lgmd1) and autosomal recessive (lgmd2). so far seven autosomal dominant and 20 autosomal recessive forms of this disease have been recognized reflec...

A 41-year-old man presented with gradually progressing proximal-dominant lower limb atrophy and weakness. His brother, mother and maternal aunt had the same symptoms. A physical examination and muscle imaging (CT and ultrasound) showed selective muscle involvement of the bilateral paraspinal, gluteus and posterior groups of lower limb muscles. Based on the characteristic muscle involvement patt...

ulrich congenital muscular dystrophy is an autosomal recessive disorder of collagen type vi-related disorders. this condition presents with early onset proximal joint contractures, muscle weakness and hyperelasticity of the distal joints. prominent calcanei are common. muscle weakness is so profound that children never achieve the ability to walk independently or walk for only short periods. se...

Percutaneous muscle biopsy is an important and acceptable technique in the study of conditions involving human skeletal muscle. A review of 436 conchotome and needle muscle biopsies obtained over 18 months in this centre is presented.

In 22 patients (19 men, 3 women; mean [+/- SD] age, 63 +/- 6 years) with chronic obstructive pulmonary disease (COPD), phosphorus content was measured by spectrophotometric methods on muscle fragments of both peripheral (quadriceps femoris needle biopsy in 22 patients) and respiratory muscles (external intercostal muscle surgical biopsy in 14 patients). Thirty age- and sex-matched subjects were...

Paraneoplastic syndromes (PNS) are defined as clinical syndromes caused by systemic effects of malignancy that are not due to direct physical effects of metastasis. The pathophysiology of PNS is not fully understood; it may result from antibodies against tumors that cross-react with normal tissues, causing injury, or injury induced by humoral factors secreted by tumor cells. PNS may fall into 1...

A 55 yr-old man presented with progressive muscle weakness and oliguria for 5 days. Laboratory findings suggested rhabdomyolysis complicated with acute renal failure. A diagnosis of polymyositis was based upon the proximal muscle weakness on both upper and lower limbs, elevated muscle enzyme levels, muscle biopsy findings and the needle electromyography findings. The muscle biopsy showed extens...