LAMA2-related muscular dystrophy mimicking multiple sclerosis

Jacqueline Koshorek, Nara De MacEna Sobreira, Shiv Saidha

Research output: Contribution to journalArticlepeer-review


Laminin-alpha2-related muscular dystrophy (LAMA2-MD) is a genetic condition due to reduced LAMA2, a protein found throughout the nervous system. Late-onset LAMA2-MD may present with proximal muscle weakness, joint contractures, neuropathy, epilepsy and/or cardiorespiratory issues, and is less common than the neonatal form. We describe a novel phenotype of LAMA2-MD with progressive myelopathy and spinal cord abnormalities. A woman was referred for evaluation of multiple sclerosis (MS) with progressive gait difficulty and abnormal neuroimaging showing white matter abnormalities in the brain and spinal cord. Ancillary testing was not consistent with primary neuroinflammatory disorders, systemic autoimmunity or infection. Metabolic workup revealed low cyanocobalamin. Genetic testing identified two LAMA2-MD variants. Genetic disorders can mimic treatable neurological conditions. Chronic progressive course, involvement of the peripheral and central nervous systems, and confluent white matter abnormalities should be investigated with molecular testing that includes LAMA2 sequencing to ensure proper diagnosis and management.

Original languageEnglish (US)
Article numbere249061
JournalBMJ case reports
Issue number7
StatePublished - Jul 22 2022


  • multiple sclerosis
  • muscle disease
  • neuro genetics
  • neuroimaging
  • neuromuscular disease

ASJC Scopus subject areas

  • General Medicine


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