Introduction

Congenital myasthenia gravis (CMS) is a rare inherited disorder of neuromuscular junction, characterized by weakness and easily fatigability. There is lack of data in India.

Objective

To study genotype phenotype co-relation in genetically confirmed cases of Congenital Myasthenia Gravis.

Methods

Here we report eight cases of congenital myasthenia gravis confirmed by genetic studies.

Results

Out of eight, seven were girls (87.5%) and one boy(12.5%); M:F ratio was 1:7. Age of presentation ranged from 3 months to 4 years. Mean age of presentation was 1 year. Consanguinity was seen in 5/8 (62.5%) patients. Family history was positive in 2/8 (25%) patients. The most common presentation are ptosis(87%) and limb weakness (75%) with or without bulbar symptoms (50%), One Patient had only Limb Girdle Symptoms. Facial Muscle weakness was seen in 3/8 Patients (37.5%). All patients had post synaptic Myasthenia. Seven out of eight (87.5%) had CHRNE mutation and one with Limb girdle Myasthenia had ALG2 mutation. All patients showed good response to Pyridostigmine and showed improvement in symptoms.

Conclusions

Exom gene sequencing is a useful tool to diagnose CMS. Most common type of Congenital Myasthenia gravis in our series was CHRNE mutation. Congenital myasthenia can present with limb girdle symptoms without ocular involvement.