A Rare Neuromuscular Disease: Limb-girdle Muscular Dystrophy-R18 Case Report

Limb-girdle muscular dystrophies (LGMDs) are a heterogenous group of genetic diseases generally characterized by proximal muscle weakness (1).Among them, LGMD-R18 is an autosomal recessive form caused by a mutation on the 4q35 locus of the gene encoding transport protein particle complex 11 (TRAPPC11).The available clinical data is limited to case reports and series of Syrian, Hispanic, Chinese, and Turkish origin (1,2,3,4,5,6).Our aim was to contribute to the existing data by presenting a LGMD-R18 case, to the best of our knowledge, the first reported from Türkiye.A 25-year-old, consanguineous male patient visited our clinic due to difficulty in walking and frequent falls.He began to walk at a normal age, but suffered a developmental delay following a single non-febrile epileptic seizure at age three.While his seizures did not recur, he started to fall behind his peers in terms of physical and intellectual development, and from the age of eight, had difficulty in climbing stairs and experienced frequent falls.He was the third of four siblings, but neither his siblings nor his parents reported similar complaints.His muscle strength was 4/5 in the bilateral forearm flexors and extensors and the wrist extensors, 4/5 in the neck flexors, 3/5 in the neck extensors, 2/5 in the hip flexors, 2/5 in the hip extensors, 2/5 in the thigh adductors, and +4/5 in the knee flexors and extensors.His deep tendon reflexes were normal and his Gower's sign was positive.