Merosin-deficient congenital muscular dystrophy type 1A

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most prevalent form of congenital muscular dystrophy.
• It stems from mutations in the laminin alpha-2 gene (LAMA2) located on chromosome 6q22-23.
• Diagnosis involves clinical signs like severe hypotonia, weakness, elevated creatine kinase, white matter (WM) abnormalities, and muscle dystrophy with absent merosin.

Observation:

• A case study of a girl with MDC1A was investigated.
• The patient presented with merosin-negative congenital muscular dystrophy (MN-CMD) and congenital feet deformity.
• Serum creatine kinase levels were significantly elevated at 1045 U/L.

Findings:

• Immunohistochemistry confirmed dystrophin presence, merosin absence, and normal utrophin expression.
• Nerve conduction studies were normal, but electromyography indicated a myopathic process.
• MRI revealed white matter abnormalities, corpus callosum hypotrophy, absent cingulate gyrus, and reduced pituitary size.

Implications:

• This case broadens the understanding of MDC1A clinical variability.
• The association with congenital feet deformity and specific brain MRI findings offers new diagnostic insights.
• Further research into LAMA2 mutations and their phenotypic spectrum is warranted.