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High prevalence of paraspinal muscle involvement in adults with McArdle disease

Lookup NU author(s): Professor Jordi Diaz ManeraORCiD


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© 2022 Wiley Periodicals LLC.Introduction/Aims: Very few studies analyzing the pattern of muscle involvement in magnetic resonance imaging (MRI) of patients with McArdle disease have been reported to date. We aimed to examine the pattern of muscle fat replacement in patients with McArdle disease. Methods: We performed a retrospective study including all patients with genetically confirmed McArdle disease followed in our center from January 2010 to March 2021. Clinical data were collected from the medical record. Whole-body MRI was performed as part of the diagnostic evaluation. The distribution of muscle fat replacement and its severity were analyzed. Results: Nine patients were included. Median age at onset was 7 y (range, 5–58) and median age at the time when MRI was performed was 57.3 y (range, 37.2–72.8). At physical examination, four patients had permanent weakness: in three the weakness was limited to paraspinal muscles, whereas in one the weakness involved the paraspinal and proximal upper limb muscles. Muscle MRI showed abnormalities in six of the seven studied patients. In all of them, fat replacement of paravertebral muscles was found. Other muscles frequently affected were the tongue in three, subscapularis in three, and long head of biceps femoris and semimembranosus in two. Discussion: Our findings suggest that paraspinal muscle involvement is common in McArdle disease and support the need to include this disease in the differential diagnosis of the causes of paraspinal muscle weakness. Involvement of the tongue and subscapularis are also frequent in McArdle disease.

Publication metadata

Author(s): Alvarez-Velasco R, Nunez-Peralta CA, Alonso-Perez J, Gallardo E, Collet-Vidiella R, Reyes-Leiva D, Pascual-Goni E, Martin-Aguilar L, Caballero-Avila M, Carbayo-Viejo A, Llauger-Rosello J, Diaz-Manera J, Olive M

Publication type: Article

Publication status: Published

Journal: Muscle and Nerve

Year: 2022

Volume: 65

Issue: 5

Pages: 568-573

Print publication date: 01/05/2022

Online publication date: 16/02/2022

Acceptance date: 12/02/2022

ISSN (print): 0148-639X

ISSN (electronic): 1097-4598

Publisher: John Wiley and Sons Inc


DOI: 10.1002/mus.27523

PubMed id: 35174518


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