Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: EC:4.1.2.13 (aldolase)
 3,461 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of polymyositis with repeated dysphagia and muscle weakness associated with peculiar findings of skin was reported. The patient was a 67-year-old man. His birth and development was normal. There was no family history of neuromuscular disease. On 26th March 1987 he was admitted to a hospital because of dysarthria and dysphagia after fever and diagnosed as having viral myositis. His conditions improved spontaneously with bed rest and he left hospital on 14th April. On 23rd April he had chill and sore throat with fever. On 27th he was admitted to the same hospital because of dysarthria and muscle weakness of the proximal portion of the upper limbs. These symptoms also improved with bed rest. He had repeated these symptoms several times and then he was admitted to our hospital on 12th June. On examination he showed the skin pigmentation under the right eye and the eruption in the back of hands and the buttocks. Muscle weakness was observed in the proximal portion of the upper limbs and the neck flexor. Laboratory tests in admission were as follows: sGOT 49 mU/ml, sGPT 104 mU/ml, LDH 1064 mU/ml, CPK 565 mM/ml, aldolase 25.2 IU/1/37 degrees C. Electromyography showed the typical myogenic changes and biopsy of left biceps brachii revealed inflammatory cells in the muscle fiber which are specific to polymyositis. Immuno-histochemical study is performed to analyse the subpopulation of mononuclear cells in biopsied muscle and skin. Mononuclear cells infiltrated into perimysium, endomysium and epidermis were positive for T11 and T8, but less positive for T4, B1 and Leu11. On the basis of these findings he was diagnosed as having "polymyositis syndrome".
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PMID:[A case of polymyositis with repeated dysphagia and muscle weakness associated with peculiar findings of skin]. 280 15

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