Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027121 (myositis)
 4,538 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amotrophic lateral sclerosis diagnosis is based on clinical and electrophysiological findings. Transcranial magnetic stimulation and MRI can show abnormalities which are not specific, but which can confirm upper motor neuron involvement. The other tests are performed to exclude differential diagnosis. Tests which should be performed in every cases are: medullar MRI, blood counts, erythrocyte sedimentation, serum protein electrophoresis, calcium, phosphore, serological tests for HIV, siphylis, Lyme disease. Other tests are made in some clinical circonstances to exclude genetical disease or metabolic disorders (SMN gene, Kennedy gene, Hexosaminidase A, very long chaine fatty acids), haematological or paraneoplasic disorders (anti-neurons antibodies, PSA, CT of chest and abdomen, mammography, bone marrow biopsy) or inclusion myositis (muscle biopsy).
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PMID:[What is the role of other complementary examination in amyotrophic lateral sclerosis?]. 1712 90

We present the case of a previously well, 70-year-old lady who presented with gait deterioration and a clinicoradiological picture of myositis with T2-enhancement on MRI of the distal lower limb muscles. A muscle biopsy pointed towards neurogenic amyotrophy and a mixed demyelinating and axonal sensorimotor polyneuropathy was confirmed on nerve conduction studies. This was initially thought to be secondary to a myeloproliferative disorder but a positron emission tomography scan showed uptake in the left hip which corresponded to what was previously reported as a subchondral cyst on CT. A biopsy showed this to be a plasmacytoma in the context of a normal serum protein electrophoresis and a polyclonal increase in light chains on serum-free light chain estimation. The patient was started on treatment 6 months after the presentation for a diagnosis of POEMS syndrome, by which time, the patient had become bed-bound and fully dependent.
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PMID:POEMS syndrome: a unique presentation and a diagnostic challenge. 3180 74

Statins are widely prescribed medications to prevent cardiovascular events. While self-limited statin myopathy is relatively common, statin-induced necrotizing autoimmune myopathy (SINAM) is extremely uncommon, with incidence of two cases per million per year. We present a case of SINAM after a decade of atorvastatin use, leading to debilitating weakness. A 71-year-old male presented with recurrent falls due to extreme bilateral lower-extremity weakness without pain or sensory changes. No fever, chills, rash, joint pain, recent infection or medication changes were reported. Reported taking atorvastatin 80 mg daily for 10 years. Physical examination revealed significant muscle wasting on right deltoid and proximal muscle weakness in all extremities. Lab tests included elevated creatinine kinase, aldolase, ESR, CRP and transaminases. Anti-HMGCR antibody was significantly elevated. TSH, serum protein electrophoresis and RPR were unremarkable. ANA, Anti-Jo-1, anti-Mi2, anti-SRP, anti-ds-DNA, anti-SSA and anti-SSB antibodies were negative. MRI of thigh revealed diffuse myositis. Electromyogram revealed an acute myopathic process. Muscle biopsy showed muscle necrosis and C5b-9 sarcolemmal deposits on non-necrotic fibers without rimmed vacuoles. He was diagnosed with SINAM. Statin was discontinued, and steroid, immunoglobulins and azathioprine were started with gradual improvement. Unlike the self-limiting statin myopathy, SINAM is more severe and is associated with significant proximal muscle weakness, markedly elevated CK and persistent symptoms despite statin discontinuation. Anti-HMGCR antibodies are present in 100% of cases. Immunosuppressants are the mainstay of treatment, and statin rechallenge should never be done in these cases. Although relatively rare, physicians should be cognizant of SINAM.
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PMID:Statin-induced necrotizing autoimmune myopathy: an extremely rare adverse effect from statin use. 3200 59

The purpose of the study is to examine in depth and analyze the clinical and some paraclinical characteristics for a family history of Duchenne muscular dystrophy. We analyzed the follow up clinical and laboratory data of Duchenne muscular dystrophy in two brothers-german, aged 16 and 14, respectively. The patients underwent a standardized examination, involving studying the medical case history, general clinical data, determining Sheldon's somatotype and the constitutional type, the detailed neurological status examination, testing a personality type, laboratory and instrumental examinations. Through the laboratory examination we determined the general blood test indicators, total serum protein levels, total cholesterol, the ALAT, ASAT, CPK levels, the indicators of the immunogram, myositis profile and the genetic markers of the disease. The instrumental examination included the ultrasound of the abdominal organs, muscles, as well as echo-cardiography, electroneuromyography. A complete examination fragment of 42 patients with myodystrophies is presented. The paper presents the neurological examination results, the genetic study data and the CPK level indicators in the representatives of Duchenne muscular dystrophy family history. The given family history of Duchenne muscular dystrophy showed two brothers-german to have differences both in the defective dystrophin gene exons at Xp21 and in the disease clinical picture. Thus, patient A., who is an elder brother was detected to have exon 47, 48, 50 and 52 deletion, and patient B., who is a younger brother, was found to have exon 45-43 deletion. The presented family history of Duchenne muscular dystrophy acknowledges the fact that the clinical, genetic, biochemical and other characteristics in patients with dystrophinopathies warrant further comprehensive investigations in order to update diagnostic and prognostic techniques, considering the great medical and social significance of this disabling pathology. However, the onset age of the disease, the clinical course, and the changes in the CPK level were different. Due to the muscle ultrasound both patients were detected to have degenerative changes in the proximal upper and lower limbs.
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PMID:A FAMILY HISTORY OF DUCHENNE MUSCULAR DYSTROPHY. 3284 Nov 86