myasthenia gravis (mg) is a disorder of the neuromuscular junction. in children, the disease may be congenital or due to an autoimmune process. clinical manifestations may be purely ocular or may include generalized weakness, fatigability, dysphagia, and disorders of speech. in this article, 27 children (14 female, 13 male) were prospectively studied from birth to age fifteen. disease presentat...

objective this study was undertaken to evaluate the clinical spectrum of myasthenia gravis in children and determine factors that help the clinician in his/her diagnosis and management. materials & methods a retrospective review was performed on all pediatric patients suffering from myasthenia gravis (m.g) admitted in the department of pediatric neurology of the mofid hospital of the shaheed be...

Congenital myasthenia gravis is caused by genetic mutations affecting neuromuscular transmission, characterized by muscle weakness usually starting in childhood. A two and a half years old male child presented with bilateral ptosis and hoarseness of voice. The symptoms progressed giving the clinical impression of congenital myasthenia gravis. A series of tests were done including Ice Pack Test,...

Myasthenia gravis is an autoimmune disorder affecting the neuromuscular junction. Ocular myasthenia gravis presents as ptosis with extraocular motility restriction and is prone to be misdiagnosed as third nerve palsy or congenital or aponeurotic ptosis. Juvenile ocular myasthenia gravis in very young children is difficult to diagnose and can be easily labeled as a case of congenital ptosis, the...

In recent years, understanding of the pathogenesis and clinical presentation of distinct myasthenia subtypes has increased significantly. This article reviews the clinical manifestations of autoimmune myasthenia gravis (including myasthenia associated with anti-muscle-specific kinase antibodies), ocular myasthenia, and antibody negative myasthenia. The following treatments are examined: choline...

Limb girdle myasthenic syndromes are rare genetic disorders described under the broad heterogeneous group known as congenital myasthenic syndromes and present with mixed features of myasthenia and myopathy. The familial limb girdle myasthenia has been described as one with selective weakness of pectoral and pelvic girdles, showing a positive response to edrophonium chloride. A report of two sis...

Neuromuscular junction disorders represent a wide group of neurological diseases characterized by weakness, fatigability and variable degrees of appendicular, ocular and bulbar musculature involvement. Its main group of disorders includes autoimmune conditions, such as autoimmune acquired myasthenia gravis and Lambert-Eaton syndrome. However, an important group of diseases include congenital my...

BACKGROUND Nemaline rod disease is a congenital myopathy, presentation of which may mimic myasthenia gravis. METHOD We report a suspected case of nemaline rod disease in a female adolescent who presented with features similar to myasthenia gravis but failed to respond effectively to its conventional management. She had features of respiratory failure and cardiomyopathy. RESULTS Patient had ...