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.
- multiple sclerosis
- muscle disease
- neuro genetics
- neuromuscular disease
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Contributors All authors contributed to patient care. SS conceived the plan for the case report. JK wrote the manuscript and prepared figures and tables with support and editing from NdMS and SS.
Funding This study was funded by the National Human Genome Research Institute/National Heart, Lung, and Blood Institute (grant number: NHGRI/NHLBI UM1 HG006542); National Multiple Sclerosis Society (grant number: RG-1606-08768 and RG-2001-36011).
Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.