A Neonate With MuSK Congenital Myasthenic Syndrome Presenting With Refractory Respiratory Failure
نویسندگان
چکیده
منابع مشابه
A severe congenital myasthenic syndrome with "dropped head" caused by novel MUSK mutations.
INTRODUCTION Congenital myasthenic syndromes are rare. Mutations in MUSK were first described in 2004. Thirteen patients have been reported to date, mostly with a relatively mild course. The molecular diagnosis has implications for choice of treatment and genetic counseling. METHODS Clinical course and electrophysiological, pathological, and genetic findings were assessed. RESULTS We descri...
متن کاملMutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction
We describe a severe congenital myasthenic syndrome (CMS) caused by two missense mutations in the gene encoding the muscle specific receptor tyrosine kinase (MUSK). The identified MUSK mutations M605I and A727V are both located in the kinase domain of MuSK. Intracellular microelectrode recordings and microscopy studies of the neuromuscular junction conducted in an anconeus muscle biopsy reveale...
متن کاملA Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy. Major symptoms of affected individuals include weakness and fatigue during the first years of life. Patients may show hypotonia, facial weakness, swallowing difficul...
متن کاملPolymyositis presenting with respiratory failure.
Polymyositis is a systemic autoimmune disorder characterised by inflammatory myopathy of the skeletal muscles predominantly affecting the proximal muscles and associated with extra-muscular manifestations like dysphagia and skin involvement. In this case report, we describe the occurrence of diaphragmatic weakness and respiratory failure due to polymyositis with relatively well preserved power ...
متن کاملtwo sisters with congenital myasthenic syndrome: case report
purpose: to report two sisters with congenital myasthenic syndrome (cms) masquerading as myasthenia gravis. patients and findings: two six and seven years old sisters presented with variable strabismus, ptosis, and fatigue. all symptoms were aggravated with exercise and improved with rest. intramuscular prostigmin injection decreased their symptoms. a diagnosis of cms was made according to earl...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Frontiers in Pediatrics
سال: 2020
ISSN: 2296-2360
DOI: 10.3389/fped.2020.00166