Is the serum creatine kinase level elevated in congenital myasthenic syndrome?

Ohno, Kinji

doi:10.1136/jnnp-2016-313416

Cited by 3 publications

(6 citation statements)

References 5 publications

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“…Hyper-CKemia, not present in the majority of our adult patients with CMS but reported in some cases of CMS and ranging from slight to marked, can further misdirect the diagnosis of CMS. 16,17 Needle EMG studies typically show short-duration and low-amplitude motor unit potentials in most patients, which can suggest a myopathy. Motor unit instability, suggestive of neuromuscular junction dysfunction, was not noted in all patients, perhaps because it was subtle or overlooked.…”

Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndromes in adult neurology clinic

et al. 2018

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ObjectiveTo investigate the diagnostic challenges of congenital myasthenic syndromes (CMS) in adult neuromuscular practice.MethodsWe 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.ResultsWe 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.ConclusionMisdiagnosis 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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Section: Discussionmentioning

confidence: 99%

Congenital myasthenic syndromes in adult neurology clinic

et al. 2018

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“…In addition, in five patients in three pedigrees with AGRN -CMS, which primarily shows endplate AChR deficiency, a marked increment of CMAP after exercise was reported [ 6 ], but not in other AGRN -CMS patients. GMPPB -CMS, GFPT1 -CMS, and SCCMS show elevated serum creatine kinase (CK) levels up to 24 times the upper limit of the normal range [ 7 , 8 ].…”

Section: Overview Of Congenital Myasthenic Syndromes (Cms)mentioning

confidence: 99%

“…Serum CK levels are normal in most groups of CMS. However, serum CK levels are elevated ~1.5 times the upper limit of normal in endplate myopathies in SCCMS, ~3 times in tubular aggregates in GFPT1 -CMS and DOK7 -CMS, and 2-to-24 times (average 10.7 times) in GMPPB -CMS [ 7 , 8 ].…”

Section: Electrophysiology Muscle Biopsy Laboratory Examinations Diff...mentioning

confidence: 99%

“…Muscle MRI shows displacement of muscle tissue to fibrous and adipose tissues in paravertebral and proximal skeletal muscles [ 25 , 407 ], as observed in muscular dystrophies. In GMPPB -CMS, serum CK is elevated to 2 to 24 times the upper limit of normal (average 10.7 times) [ 7 , 8 ]. In GFPT1 -CMS, serum CK is elevated to about 3 times the upper limit of normal [ 7 , 8 ].…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

“…In GMPPB -CMS, serum CK is elevated to 2 to 24 times the upper limit of normal (average 10.7 times) [ 7 , 8 ]. In GFPT1 -CMS, serum CK is elevated to about 3 times the upper limit of normal [ 7 , 8 ]. The same variant causes GMPPB -CMS [ 25 ] and limb-girdle muscle weakness [ 408 ], indicating that myasthenia might not be deeply evaluated.…”

Section: Thirty-five Genes In 14 Groups Of Cmsmentioning

confidence: 99%

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Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Ohno

Ohkawara

Shen

et al. 2023

IJMS

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Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders characterized by impaired neuromuscular signal transmission due to germline pathogenic variants in genes expressed at the neuromuscular junction (NMJ). A total of 35 genes have been reported in CMS (AGRN, ALG14, ALG2, CHAT, CHD8, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LAMA5, LAMB2, LRP4, MUSK, MYO9A, PLEC, PREPL, PURA, RAPSN, RPH3A, SCN4A, SLC18A3, SLC25A1, SLC5A7, SNAP25, SYT2, TOR1AIP1, UNC13A, VAMP1). The 35 genes can be classified into 14 groups according to the pathomechanical, clinical, and therapeutic features of CMS patients. Measurement of compound muscle action potentials elicited by repetitive nerve stimulation is required to diagnose CMS. Clinical and electrophysiological features are not sufficient to identify a defective molecule, and genetic studies are always required for accurate diagnosis. From a pharmacological point of view, cholinesterase inhibitors are effective in most groups of CMS, but are contraindicated in some groups of CMS. Similarly, ephedrine, salbutamol (albuterol), amifampridine are effective in most but not all groups of CMS. This review extensively covers pathomechanical and clinical features of CMS by citing 442 relevant articles.

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Effects of Dietary Calcium Lactate Supplementation on Laying Performance, Blood Index, Shinbone Quality, Jejunal Immunity, and Egg Quality of Aged Laying Hens

Qiu,

Chang,

Wang

et al. 2024

Agriculture

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This study aimed to verify the potential of calcium lactate for the performance, blood index, shinbone quality, jejunal immunity, and egg quality of aged laying hens. A total of 360 62-week-old Hy-Line Brown laying hens were randomly divided into four treatments, with six replicates and 15 chickens per replicate. Experimental groups were fed with 0.25%, 0.5%, and 1.0% calcium lactate to substitute limestone in the control group (maintaining the same amount of calcium). The feeding trial lasted for 12 weeks. The laying rate and daily egg mass of laying hens fed the diets supplemented with calcium lactate was increased relative to those of the control group. The dietary addition of calcium lactate for laying hens enhanced the eggshell ratio, eggshell thickness, eggshell strength, and albumen height of eggs, and the addition level of 0.5% had the best effect. Dietary calcium lactate increased the number of red blood cells, corpuscular hemoglobin, mononuclear leucocytes and basophilic granulocytes, and decreased heterophils in the blood of laying hens. The activities of serum alanine transaminase and creatine kinase in laying hens was reduced by the dietary addition of calcium lactate. Calcium lactate supplementation in diets increased the serum calcium and phosphorus contents of laying hens. The dietary inclusion of calcium lactate increased the contents of IgA, IgG, lysozyme, and sIgA in the jejunal mucosa, and the 0.5% addition level worked best, but the IL-2 content decreased. The addition of 0.5% calcium lactate to the diet reduced the maximal force of the shinbone and increased the work required for shinbone rupture in laying hens. In conclusion, the dietary addition of calcium lactate improved the performance and egg quality of laying hens, probably by its positive effects on body health, intestinal digestible ability, calcium bioavailability, and jejunal mucosal immunity. The optimum amount of calcium lactate in the diet of laying hens is recommended to be 0.5%.

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Is the serum creatine kinase level elevated in congenital myasthenic syndrome?

Cited by 3 publications

References 5 publications

Congenital myasthenic syndromes in adult neurology clinic

Congenital myasthenic syndromes in adult neurology clinic

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Effects of Dietary Calcium Lactate Supplementation on Laying Performance, Blood Index, Shinbone Quality, Jejunal Immunity, and Egg Quality of Aged Laying Hens

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