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[SMC]un long chemin vers le diagnostic et le traitement.

Posté : 18 déc. 2018 10:39
par Pboulanger
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:arrow: Lu sur :https://www.ncbi.nlm.nih.gov/pubmed/30291185


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Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy.
Kao JC1, Milone M1, Selcen D1, Shen XM1, Engel AG1, Liewluck T2.
Neurology. 2018 Nov 6;91(19):e1770-e1777. doi: 10.1212/WNL.0000000000006478. Epub 2018 Oct 5.
Abstract
  • OBJECTIVE:

    To investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.
  • METHODS:

    We searched the Mayo Clinic database for patients with CMS diagnosed in adulthood in the neuromuscular clinic between 2000 and 2016. Clinical, laboratory, and electrodiagnostic data were reviewed.
  • RESULTS:

    We identified 34 patients with CMS, 30 of whom had a molecular diagnosis (14 DOK7, 6 RAPSN, 2 LRP4, 2 COLQ, 2 slow-channel syndrome, 1 primary acetylcholine receptor deficiency, 1 AGRN, 1 GFPT1, and 1 SCN4A). Ophthalmoparesis was often mild and present in 13 patients. Predominant limb-girdle weakness occurred in 19 patients. Two patients had only ptosis. Age at onset ranged from birth to 39 years (median 5 years). The median time from onset to diagnosis was 26 years (range 4-56 years). Thirteen patients had affected family members. Fatigable weakness was present when examined. Creatine kinase was elevated in 4 of 23 patients (range 1.2-4.2 times the upper limit of normal). Repetitive nerve stimulation revealed a decrement in 30 patients. Thirty-two patients were previously misdiagnosed with seronegative myasthenia gravis (n = 16), muscle diseases (n = 15), weakness of undetermined cause (n = 8), and others (n = 4). Fifteen patients received immunotherapy or thymectomy without benefits. Fourteen of the 25 patients receiving pyridostigmine did not improve or worsen.
  • CONCLUSION:

    Misdiagnosis occurred in 94% of the adult patients with CMS and causes a median diagnostic delay of nearly 3 decades from symptom onset. Seronegative myasthenia gravis and muscle diseases were the 2 most common misdiagnoses, which led to treatment delay and unnecessary exposure to immunotherapy, thymectomy, or muscle biopsy.
 
 


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