muscle biopsy

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muscle biopsy

A biopsy from muscle in patients with symptoms attributable to neuromuscular disease, which may be primary (e.g., dystrophies or myopathies), secondary (e.g., drug-related, endocrine, neurologic or muscular) or systemic (e.g., necrotising vasculitis).

Special studies
Biochemical analysis, EM, histochemistry, immunohistochemistry, molecular tests; the site selection is critical, as is handling and transport.

Role of muscle biopsy
Differentiate between neurologic and myopathic disease; diagnose myositis, degenerative disease (Duchenne’s muscular dystrophy), or conditions induced by exogenous toxins (e.g., alcohol-induced polymyopathy).

muscle biopsy

A method of diagnosis of muscle disorders in which a small sample of muscle is removed for microscopic and sometimes electron microscopic examination. Muscle biopsy can provide valuable information on conditions such as MUSCULAR DYSTROPHY, RHEUMATOID ARTHRITIS, MALNUTRITION, ALCOHOLISM and various endocrine disorders. Electron microscopy can reveal important abnormalities in the ultrastructure of muscle cells, especially in the MITOCHONDRIA.

Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

References in periodicals archive ?

Enzymatic assay on muscle biopsy was not performed due to shortage of tissue.

Late-Onset Pompe Disease with Nemaline Bodies

Muscle biopsy is crucial for differentiation; however, in the future, larger studies could prove whether using the HMGCR antibodies alone would be sufficient to make the diagnosis and implement the immunosuppressive or intravenous immunoglobulin therapy.

A Case of Atorvastatin-Associated Necrotizing Autoimmune Myopathy, Mimicking Idiopathic Polymyositis

This case points out a novel pathological finding seen in YPS, tubular aggregates on muscle biopsy. Other patients with YPS have previously had myopathic features described, but there is limited information regarding the muscle pathology.

Myopathy in the York Platelet Syndrome: An Underrecognized Complication

During the discussion it was pointed out that we do need to have facilities for muscle biopsy to diagnose and treat these rare diseases.

Hereditary Neuromuscular disorders in Pakistan are common due to consanguineous marriages-Dr. Sara Khan

Since muscle biopsy is less invasive for patients compared to endomyocardial biopsy, cardiologists need to consider it regardless of muscle weakness.

Mitochondrial Cardiomyopathy Presenting as Dilated Phase of Hypertrophic Cardiomyopathy Diagnosed with Histological and Genetic Analyses

Diagnosis is based on the clinical history of subacute evolving muscle weakness and the presence of nemaline rods on muscle biopsy. Myopathic EMG with fibrillation potentials and normal or low serum CK are also supportive of the diagnosis.

Sagging Eye Syndrome or Nemaline Rod Myopathy? Divergence Insufficiency with Levator Dehiscence as an Overlapping Symptom between Two Diagnoses

Diagnosis is made by estimating the acid alpha glucosidase activity in either skin biopsy (Fibroblasts), muscle biopsy (Muscle cells) or in white blood cells.

A rare metabolic disorder: Pompe's disease

In doubtful cases, a skin and muscle biopsy together with an electromyography will set the diagnoses apart.

A rarity that can lead to a casualty--a retrospective study of 12 cases of dermatomyositis

EMG studies may be normal in half of the patients or may show non-specific myopathic changes.3 Muscle biopsy may show variation in size of muscle fibers, mild focal necrosis and occasionally mild inflammatory infiltrates in contrast to polymyositis, in which inflammation, necrosis and regeneration predominates.3 Although EMG studies and muscle biopsy may be helpful, clinical and biochemical response to thyroxine is the ultimate clue to diagnosis.

Hypothyroidism simulating as polymyositis

Andrew Engel, Professor of Neurology at the Mayo Clinic in Rochester, for his contribution of the muscle biopsy pathology images.

Inclusion body myositis masquerading as cardiac dyspnea

Muscle Biopsy: A Practical Approach, 4th Edition (online access included)

An immediate vastus lateralis muscle biopsy was performed.

Anncaliia algerae microsporidial myositis

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