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.
