Muscular Dystrophy- Facioscapulohumeral Dystrophy - A Rare Autosomal Dominant Disorder

ABSTRACT

A 24-year-old man presented to the Medicine OPD of Sanjay Gandhi Memorial Hospital, Rewa (M.P.), with complaints of weakness of limbs and decrease in muscle mass from past 12 years. He was apparently normal till the age of 8 years, after which, he started developing weakness in the limbs.Weakness of limbs was insidious in onset and gradually progressive in nature, due to which he had to leave schooling. He noticed that he could not get up from sitting position without support, and was unable to climb stairs. The weakness gradually progressed and currently patient is finding it difficult to even walk. It is associated with difficulty in lifting arms above shoulder, combing hair as well as holding heavy objects. He also has complaints of inability to smile, whistle, hold air in mouth, incomplete closure of eyes as well as difficulty in chewing. There was no history of any distal muscle weakness, numbness, abnormal body movement, dysphagia, dysarthria, nasal regurgitation, chest pain, palpitation, breathlessness, bladder and bowel involvement. He is also having no history of any recurrent hospital admission.