{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T10:49:37Z","timestamp":1791370177924,"version":"4.3.1"},"reference-count":10,"publisher":"SMC Media","issue":"10","license":[{"start":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T00:00:00Z","timestamp":1790294400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:p>Introduction: Hirayama disease (HD) is a rare, self-limiting cervical flexion myelopathy causing progressive, painless distal upper-limb weakness, typically in young Asian males. Loeys-Dietz syndrome (LDS) is a heritable connective tissue disorder due to TGF-\u03b2 pathway variants, associated with dural ectasia. Their co-occurrence has not previously been reported. Case description: We describe a 23-year-old woman with genetically confirmed LDS type 2 who developed progressive, painless distal upper-limb weakness, initially unilateral and later bilateral. Examination and electrophysiology showed a C7\u2013T1 polyradicular pattern. Dynamic flexion cervical magnetic resonance imaging (MRI) demonstrated anterior displacement of the posterior dural sac at C5\u2013C7, fully reversible on extension, confirming HD. Conclusion: This presentation was atypical for HD (female sex, third-decade onset, bilateral course), yet electrophysiological and dynamic-MRI findings were unequivocal. HD should be considered in patients with heritable connective tissue disease presenting with progressive distal upper-limb weakness, irrespective of sex or age, and dynamic flexion MRI is essential for diagnosis.<\/jats:p>","DOI":"10.12890\/2026_007397","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T14:05:29Z","timestamp":1790345129000},"source":"Crossref","is-referenced-by-count":0,"title":["Hirayama disease in a patient with Loeys-Dietz syndrome: the first reported association"],"prefix":"10.12890","volume":"13","author":[{"given":"Lorenzo","family":"Silva-Hernandez","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Borja","family":"Cabal-Paz","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pablo","family":"Tutor de Ureta","sequence":"additional","affiliation":[{"name":"Rare Disorders Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"Brea-\u00c1lvarez","sequence":"additional","affiliation":[{"name":"Neuroradiology Department, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Beatriz","family":"De la Puente-Garrido","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Puerta de Hierro University Hospital of Majadahonda, Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"10397","published-online":{"date-parts":[[2026,9,25]]},"reference":[{"key":"10.12890\/2026_007397_ref1","doi-asserted-by":"crossref","unstructured":"Hirayama K, Tomonaga M, Kitano K, Yamada T, Kojima S, Arai K. Focal cervical poliopathy causing juvenile muscular atrophy of distal upper extremity: a pathological study. J Neurol Neurosurg Psychiatry. 1987;50(3):285-90. doi: 10.1136\/jnnp.50.3.285.","DOI":"10.1136\/jnnp.50.3.285"},{"key":"10.12890\/2026_007397_ref2","unstructured":"Loeys BL, Dietz HC. Loeys-Dietz Syndrome. 2008. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993\u20132026."},{"key":"10.12890\/2026_007397_ref3","doi-asserted-by":"crossref","unstructured":"Chen CJ, Hsu HL, Tseng YC, Lyu RK, Chen CM, Huang YC, et al. Hirayama flexion myelopathy: neutral-position MR imaging findings--importance of loss of attachment. Radiology. 2004;231(1):39-44. doi: 10.1148\/radiol.2311030004.","DOI":"10.1148\/radiol.2311030004"},{"key":"10.12890\/2026_007397_ref4","doi-asserted-by":"crossref","unstructured":"Tashiro K, Kikuchi S, Itoyama Y, Tokumaru Y, Sobue G, Mukai E, et al. Nationwide survey of juvenile muscular atrophy of distal upper extremity (Hirayama disease) in Japan. Amyotroph Lateral Scler. 2006;7:38\u201345. doi: 10.1080\/14660820500396877.","DOI":"10.1080\/14660820500396877"},{"key":"10.12890\/2026_007397_ref5","doi-asserted-by":"crossref","unstructured":"Nalini A, Gourie-Devi M, Thennarasu K, Ramalingaiah AH. Monomelic amyotrophy: clinical profile and natural history of 279 cases seen over 35 years (1976\u20132010). Amyotroph Lateral Scler Frontotemporal Degener. 2014;15:457\u2013465. doi: 10.3109\/21678421.2014.903976.","DOI":"10.3109\/21678421.2014.903976"},{"key":"10.12890\/2026_007397_ref6","doi-asserted-by":"crossref","unstructured":"Pradhan S. Bilaterally symmetric form of Hirayama disease. Neurology. 2009;72(24):2083-9. doi: 10.1212\/WNL.0b013e3181aa5364.","DOI":"10.1212\/WNL.0b013e3181aa5364"},{"key":"10.12890\/2026_007397_ref7","doi-asserted-by":"crossref","unstructured":"Chen K, Yang Y, Zhu D, Zhu Y, Lyu F, Jiang J, et al. Association of joint hypermobility with range of cervical motion and its impact on the motor unit loss in patients with Hirayama disease. Muscle Nerve. 2023;68:729\u2013736. doi: 10.1002\/mus.27959.","DOI":"10.1002\/mus.27959"},{"key":"10.12890\/2026_007397_ref8","doi-asserted-by":"crossref","unstructured":"Hommel AL, Jewett T, Mortenson M, Caress JB. Juvenile muscular atrophy of the distal upper extremities associated with X-linked periventricular heterotopia with features of Ehlers-Danlos syndrome. Muscle Nerve. 2016;54:794\u2013797. doi: 10.1002\/mus.25175.","DOI":"10.1002\/mus.25175"},{"key":"10.12890\/2026_007397_ref9","doi-asserted-by":"crossref","unstructured":"W\u00e4nman J, Persson PA, Bobinski L. Hirayama\u2019s disease associated with cervical deformity and spinal cord compression: a case report from Sweden. Acta Neurochir. 2024;166:75. doi: 10.1007\/s00701-024-05982-7.","DOI":"10.1007\/s00701-024-05982-7"},{"key":"10.12890\/2026_007397_ref10","doi-asserted-by":"crossref","unstructured":"Kono AK, Higashi M, Morisaki H, Morisaki T, Naito H, Sugimura K. Prevalence of dural ectasia in Loeys-Dietz syndrome: comparison with Marfan syndrome and normal controls. 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