DYSF and CHRNE ‘double-trouble’ mutations: A rare combination of limb girdle muscular dystrophy with congenital myasthenic syndrome in a South-Indian family

2019 ◽  
Vol 405 ◽  
pp. 287 ◽  
Author(s):  
K. Polavarapu ◽  
S. Vengalil ◽  
V. Preethish-Kumar ◽  
G. Arunachal ◽  
N.P. Mahajan ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Congenital Myasthenic Syndrome ◽  
Indian Family ◽  
Rare Combination ◽  
South Indian ◽  
Myasthenic Syndrome

Ophthalmoplegia

2015 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Family History ◽  
Muscular Dystrophy ◽  
Myasthenia Gravis ◽  
Eye Movement ◽  
Congenital Myasthenic Syndrome ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Detailed Family History ◽  
Myasthenic Syndrome ◽  
The Brain

Ophthalmoplegia is usually chronic and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy or even congenital myasthenic syndrome. Central cause of ophthalmoplegia should be ruled out first by performing doll’s eye movement. Detailed family history looking in particular for ptosis, ophthalmoplegia, and dysphagia is diagnostically very useful. Non neurological causes of ophthalmoplegia such as severe exophthalmus, and retroorbital pathology should be considered.

Ophthalmoplegia

2018 ◽  
Author(s):  
Aziz Shaibani
Keyword(s):  
Muscular Dystrophy ◽  
Myasthenia Gravis ◽  
Eye Movement ◽  
Congenital Myasthenic Syndrome ◽  
Oculopharyngeal Muscular Dystrophy ◽  
Laboratory Methods ◽  
Different Types ◽  
Myasthenic Syndrome ◽  
The Brain

Ophthalmoplegia is usually chronic, and therefore diplopia is not a feature. There is enough time for the brain to suppress one image. It is amazing how much of impairment of eye movement has to occur before the patient becomes concerned or considers it as abnormal. Neglected myasthenia gravis (MG) may be confused with mitochondrial ophthalmoplegia or oculopharyngeal muscular dystrophy (OPMD) or even congenital myasthenic syndrome (CMS). Central causes of ophthalmoplegia should be ruled out first by performing doll’s eye movement. A number of cases of different types of ophthalmoplegia are presented, along with clinical and laboratory methods to differentiate them.

Congenital myasthenic syndrome: Ten years clinical experience from a quaternary care south-Indian hospital

2020 ◽  
Vol 72 ◽  
pp. 238-243
Author(s):  
Vaibhav Wadwekar ◽  
Sruthi S. Nair ◽  
Vaibhav Tandon ◽  
Abraham Kuruvilla ◽  
Muralidharan Nair
Keyword(s):  
Clinical Experience ◽  
Congenital Myasthenic Syndrome ◽  
South Indian ◽  
Myasthenic Syndrome

Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy

2017 ◽  
Vol 56 (2) ◽  
pp. 334-340 ◽  
Author(s):  
Federica Montagnese ◽  
Elisabeth Klupp ◽  
Dimitrios C. Karampinos ◽  
Saskia Biskup ◽  
Dieter gläser ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Limb Girdle Muscular Dystrophy ◽  
Myasthenic Syndrome
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