[Autosomal recessive limb-girdle muscular dystrophy-10. Case report]

Area of Science:

• Neurology
• Genetics
• Muscular Dystrophy Research

Background:

• Limb-girdle muscular dystrophy-10 (LGMDR10) is an autosomal recessive neuromuscular disorder.
• It is caused by pathogenic variants in the TTN gene, which encodes the titin protein crucial for muscle function.
• Clinical manifestations include proximal muscle weakness, atrophy, and varying degrees of distal muscle involvement.

Observation:

• A 39-year-old Mexican male presented with limb-girdle muscular dystrophy symptoms.
• Diagnostic evaluations revealed elevated creatine phosphokinase, specific nerve conduction and electromyography findings, and left femoral neuropathy.
• Genetic analysis identified compound heterozygous pathogenic variants in the TTN gene: c.107578C>T (p. Gln37860*) and c.104269C>T (p. Gln34767*).

Findings:

• This case represents the first documented instance of LGMDR10 in Mexico.
• The patient exhibited proximal and asymmetrical muscle weakness, hypotrophy, myalgia, and nocturnal cramps.
• Molecular testing confirmed compound heterozygous pathogenic variants in the TTN gene, consistent with LGMDR10.

Implications:

• Early diagnosis of LGMDR10 is critical for timely genetic counseling and management.
• This report expands the known geographical distribution of LGMDR10.
• Prompt identification facilitates preventive strategies for complications, improving patient quality of life and disease management.