Abstract

A CHARACTERISTIC PHENOTYPIC PRESENTATION OF LANDOUZY-DEJERINE MUSCULAR DYSTROPHY IN A YOUNG ADULT MALE: A CASE REPORT

Lekshmy Satheesh*, Lekshmy B. K., Asma N. S., Sandra Suresh, Dr. Sini S. G.

ABSTRACT

Landouzy-Dejerine muscular dystrophy, also known as, Facioscapulohumeral muscular dystrophy (FSHD) is an inherited progressive skeletal muscle disorder characterized by weakness predominantly involving the facial, scapular and upper-arm muscles. It is one of the most common inherited muscular dystrophies and is usually associated with a slowly progressive course and considerable clinical variability. The disease is genetically heterogeneous, with FSHD type 1 being the predominant form and FSHD type 2 accounting for a smaller proportion of cases. The characteristic clinical manifestations include facial weakness, scapular winging, difficulty elevating the arms, selective upper-arm and shoulder-girdle weakness, muscle wasting and, in some patients, lower-limb, hearing, retinal, respiratory and cardiac involvement. Here we present a case of a 26-year-old male who developed gradually progressive difficulty raising both arms above his head since adolescence, associated with bifacial weakness, bilateral scapular winging and selective shoulder-girdle muscle weakness. Based on the characteristic distribution of muscle weakness and clinical findings, the patient was clinically suspected to have facioscapulohumeral muscular dystrophy. The patient was managed conservatively with symptomatic treatment, nutritional supplementation and a tailored physiotherapy programme aimed at maintaining muscle function and preventing complications. This case highlights the importance of early recognition of the characteristic FSHD phenotype and appropriate genetic evaluation, as timely diagnosis allows multidisciplinary management, rehabilitation and monitoring to preserve functional independence and quality of life.

Keywords: Facioscapulohumeral muscular dystrophy, Facial weakness, Genetic testing. Physiotherapy, Myopathy.