A case of X-linked myotubular myopathy mimicking hereditary spastic paraparesis

• Published in: Journal of neurology, neurosurgery and psychiatry Vol. 94; no. Suppl 1; p. A75
• Main Authors: Isabelle, Hunt, Aine, Merwick
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 28.11.2023; BMJ Publishing Group LTD
• Subjects: Association of British Neurologists: Annual Meeting Abstracts 2023
• ISSN: 0022-3050; 1468-330X
• DOI: 10.1136/JNNP-2023-ABN.231

X-Linked Myotubular Myopathy typically presents in males with severe muscle weakness often leading to respiratory distress in infancy and/or death. The symptomatic female phenotype can vary, often with limb girdle weakness and an asymmetric muscle weakness. A hereditary spastic paraparesis phenotype has scarcely been described.We present a case of 38 year old woman who presented with gait difficulties and urinary frequency since infancy. On exam she had a symmetrical lower limb weakness, hyperreflexia, bilateral positive Babinskis signs and a spastic gait. Her mother was similarly affected. Hereditary Spastic Paraparesis was suspected.Magnetic resonance imaging (MRI) of brain and spinal cord was remarkable for bilateral S1 Tarlovs cysts only. Genetic analysis detected a heterozygous pathogenic variant in the gene MTM1 c.1261-10A>G.This case further supports the pathogenicity of the MTM1 mutation mimicking Hereditary Spastic Paraparesis.