Background: There is increased prevalence of genetic testing within the field of neurology and provider awareness of genetic conditions mimicking common neurological disorders, such as multiple sclerosis (MS), is imperative. Laminina2 (LAMA2) related muscular dystrophy (LAMA2-MD) is a genetic condition that is due to absent or deficient LAMA2, a protein found in the brain, spinal cord, peripheral nerves, and muscle. 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.
Objectives: To describe a novel phenotype of LAMA2-MD characterized by progressive myelopathy with spinal cord abnormalities.
Case Presentation: A 49 year old female was referred with progressive gait difficulty, and suspicion for multiple sclerosis (MS). Brain and spine imaging showed white matter abnormalities in both compartments. Nerve conduction study revealed demyelinating neuropathy. Ancillary testing was negative for a primary neuroinflammatory disorder, systemic autoimmunity, and infection. Metabolic workup was inconclusive. Genetic testing revealed inheritance of two LAMA2-MD mutations.
Discussion: This presentation represents a novel pathological variant of late onset LAMA2-MD, since myelopathy has not been previously clinically reported. A chronic progressive course, involvement of the peripheral and central nervous systems, and confluent white matter abnormalities should raise suspicion for a genetic etiology.
Conclusion: Although rare, genetic disorders can mimic MS and other common neurological conditions, in both clinical presentation and imaging. Genetics assessment may be necessary to ensure proper counseling, diagnosis, management, and monitoring.