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Case 47 - Distal Myopathies: Miyoshi Myopathy, Dysferlinopathy; Anoctaminopathy

from Myopathies

Published online by Cambridge University Press:  29 November 2024

Jessica E. Hoogendijk
Affiliation:
University Medical Center Utrecht
Marianne de Visser
Affiliation:
Amsterdam University Medical Center
Pieter A. van Doorn
Affiliation:
Erasmus MC, University Medical Center, Rotterdam
Erik H. Niks
Affiliation:
Leiden University Medical Center
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Summary

A 24-year-old man complained of instability of his feet since the age of 16 years. From the age of 19 years onwards, he could no longer stand on tiptoe, and he experienced difficulties when playing basketball. At 20 years of age, his calves appeared to be thin. Gradually, he had some difficulty running, whereas he could climb the stairs and rise from a chair normally. He had no symptoms in his arms. The parents did not have similar problems.

Type
Chapter
Information
Neuromuscular Disease
A Case-Based Approach
, pp. 202 - 205
Publisher: Cambridge University Press
Print publication year: 2024

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References

Suggested Reading

Bugiardini, E, Morrow, JM, Shah, S, et al. The diagnostic value of MRI pattern recognition in distal myopathies. Front Neurol 2018;9:456. doi: 10.3389/fneur.2018.00456. PMID: 29997562; PMCID: PMC6028608.CrossRefGoogle ScholarPubMed
El Sherif, R, Hussein, RS, Nishino, I.Boule du biceps’ in dysferlinopathy. Neurology 2020;94(2):8384. doi: 10.1212/WNL.0000000000008782. Epub 2019 Dec 10. PMID: 31822577.CrossRefGoogle ScholarPubMed
Milone, M, Liewluck, T. The unfolding spectrum of inherited distal myopathies. Muscle Nerve 2019;59(3):283294. doi: 10.1002/mus.26332. Epub 2018 Nov 28. PMID: 30171629.CrossRefGoogle ScholarPubMed
Moore, U, Gordish, H, Diaz-Manera, J, et al.; Jain COS Consortium.Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease. Neuromuscul Disord 2021;31(4):265280. doi: 10.1016/j.nmd.2021.01.009. Epub 2021 Jan 21. PMID: 33610434.CrossRefGoogle ScholarPubMed
Pegoraro, E, Mendell, JR, Straub, V, Díaz-Manera, J. Expanding the muscle imaging spectrum in dysferlinopathy: description of an outlier population from the classical MRI pattern. Neuromuscul Disord 2023;33(4):349357. doi: 10.1016/j.nmd.2023.02.007. Epub 2023 Mar 2. PMID: 36972667.Google Scholar
Savarese, M, Sarparanta, J, Vihola, A, et al. Panorama of the distal myopathies. Acta Myol 2020;39(4):245265. doi: 10.36185/2532-1900-028. PMID: 33458580; PMCID: PMC7783427.Google ScholarPubMed
ten Dam, L, Frankhuizen, WS, Linssen, WHJP, et al. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients. Clin Genet 2019;96(2):126133. doi: 10.1111/cge.13544. Epub 2019 May 6. PMID: 30919934.CrossRefGoogle ScholarPubMed

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