Limb-girdle muscular dystrophy type 2C (LGMD2C)
DOI:
https://doi.org/10.28957/rcmfr.446Keywords:
Muscular dystrophy, sarcoglycanopathies, limb-girdle muscular dystrophyAbstract
Introduction. Limb-girdle muscular dystrophies are genetically heterogeneous disorders, responsible for muscular atrophy and severe forms of dystrophies that affect skeletal muscle, causing deterioration and loss of muscle fibers, and which manifest clinically with predominantly proximal muscle weakness and in the shoulder and pelvic girdles, progressive loss of gait, and respiratory and cardiac failure in advanced stages. Limb-girdle muscular dystrophy type 2C (LGMD2C), also known as gamma-sarcoglycanopathy, is a muscular dystrophy with autosomal recessive inheritance.
Case presentation. A 10-year-old boy who presented with a clinical picture that began two years ago and was characterized by proximal muscle weakness in the upper and lower limbs, hypotrophy of the muscles of the shoulder and pelvic girdles, scoliosis, abnormal tiptoe walking, hamstring retraction, difficulty climbing stairs, and pseudo hypertrophy of the gastrocnemius muscles. Laboratory tests revealed elevated creatine kinase levels; the electromyography study showed motor units and recruitment with abnormal characteristics compatible with intrinsic compromise of the muscle; the panoramic X-ray of the spine evidenced scoliosis, and pulmonary function studies showed moderate pulmonary involvement. The molecular study detected a homozygous pathogenic variant in the SGCG c.848G>A p.Cys283Tyr gene associated with LGMD2C, which confirmed the diagnosis of the patient.
Conclusions. In patients with LGMD2C, even when there is no definitive curative treatment, strategies can be implemented to improve quality of life, which focus on periodic follow-up and establishment of measures to prevent musculoskeletal, cardiac and respiratory complications, which is why interdisciplinary management is of vital importance for the management of this pathology.
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