Limb-girdle muscular dystrophy type 2C: a case report

*Correspondence: [e-mail].

Abstract

Case Presentation: P.R.V, 9 years old, diagnosed in 2018 with Limb-Girdle Muscular Distrophy type 2 C (LGMD2C), associated with subclinical hypothyroidism, with altered thyroid stimulating hormone (TSH) levels, and electroneuromyography with a myopathic pattern. During early childhood, he presented unexplained fevers treated with medications that led to alterations in the aspartate aminotransferase and alanine aminotransferase enzymes and alterations in creatine phosphokinase. The family history includes a paternal aunt with amyotrophic lateral sclerosis. Pathogenic homozygous SGCG gene presenting the variant c525delT- ENST00000218867, with substitution of the phenylalanine in position 175 by a leucine, was identified in genetic screening.

Discussion: The LGMD2C is a progressive neuromuscular disease, hereditary, rare and heterogeneous, and the symptoms are related to the impairment of the pelvic girdle, scapular and proximal extremity muscles. The incidence of this disease is 2 to 10 per 100,000 people, affecting both sexes equally. This myopathy is expressed in several ways and with varying degrees of severity, and its cause is associated with the absence or inadequate formation of proteins. This amino acid change causes deficiency of the gamma-sarcoglycan protein and, consequently, muscle damage and degeneration. Symptoms may manifest in the first year of life or throughout early childhood and school life. The current classification of LGMD2C is based on the form of inheritance, which can be autosomal dominant (type 1) or autosomal recessive (type 2), and on molecular analyses. The drugs used in the treatment of LGMD2C aim to slow the progression of the disease but not to correct the genetic defect, and genetic counseling is recommended.

Final Comments: LGMD2C is a myopathy that causes functional disability in those affected. There is still no pharmacological treatment that aims at a cure, so the objective is to maintain the quality of life and provide functional independence to the patients. To this end, it is necessary to evaluate individuals affected by CMD in the same family to understand the evolution of the disease and develop a unique therapeutic plan.

Publication History

Article published online:
12 May 2025