Limb-girdle muscular dystrophy 2C - case report, review and recommendations

Abstract

Introduction: Limb-Girdle Muscular Dystrophy (LGMD) is an autosomal recessive muscular dystro­phy defined with weakness of the hip and shoulder girdles leading to their paralysis and to confine­ment of the patient to a wheelchair. A common form among Bulgarian Roma families is LGMD2C - a C283Y mutation of the gamma-sarcoglycan gene. Materials and methods: Research in PubMed, European journal of human genetics, Official Journal of The Bulgarian Society of Neurology. A case report of a patient admitted for the first time to Uni­versity Hospital St. Marina - Varna. Family history: younger sister diagnosed with LGMD2C in 2014. Hospitalization was then offered to the sister and the patient, but it was not conducted. Cousin diag­nosed with LGMD2C - as well untreated, leading to immobilization. The disease presents at the age of 9 with difficulties in walking, climbing stairs and running. During hospitalization the neurologi­cal exam showed: scoliosis, Achilles and knee areflexia, low styloradialis and cubitus reflex, myopath­ic EMG, axonal degeneration of upper and lower limbs. The laboratory test was within normal val­ues except for high levels of creatine kinase (CK) - 3809 UI (13 times above the normal level: 32 - 294 UI), a DNA sample was taken for further analysis. The patient was discharged with better clinical and paraclinical specifications in a stable general condition. Results: The patient`s DNA analysis confirmed the mutation C283Y leading to the diagnosis LGMD 2C. Medical genetics consultation is offered. Rehabilitation and neurological consultations are need­ed, but taking into account the family history, the medical recommendations may not be followed. Conclusions: The described case reports that LGMD type 2C still needs screening, prophylaxis and programs for health-education among the Roma families in North-Eastern Bulgaria.