Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
J Neuromuscul Dis
; 8(4): 657-668, 2021.
Article
en En
| MEDLINE
| ID: mdl-33646171
ABSTRACT
BACKGROUND:
Ryanodine receptor 1-related myopathy (RYR1-RM) can present with a selective pattern and gradient of intramuscular fatty infiltration (IMFI) on magnetic resonance imaging (MRI).OBJECTIVE:
To demonstrate an automated protocol for quantification of IMFI in the lower extremity muscles of individuals with RYR1-RM using T1-weighted MRI and to examine the relationships of IMFI with motor function and clinical severity.METHODS:
Axial images of the lower extremity muscles were acquired by T1-weighted fast spin-echo and short tau inversion recovery (STIR) sequences. A modified ImageJ-based program was used for quantification. IMFI data was analyzed by mode of inheritance, motor function, and clinical severity.RESULTS:
Upper and lower leg IMFI from 36 genetically confirmed and ambulatory RYR1-RM affected individuals (26 dominant and 10 recessive) were analyzed using Grey-scale quantification. There was no statistically significant difference in IMFI between dominant and recessive cases in upper or lower legs. IMFI in both upper and lower legs was inversely correlated with participant performance on the motor function measure (MFM-32) total score (upper leg pâ<â0.001; lower leg pâ=â0.003) and the six-minute walk test (6MWT) distance (upper leg pâ<â0.001; lower leg pâ=â0.010). There was no significant difference in mean IMFI between participants with mild versus severe clinical phenotypes (pâ=â0.257).CONCLUSION:
A modified ImageJ-based algorithm was able to select and quantify fatty infiltration in a cohort of heterogeneously affected individuals with RYR1-RM. IMFI was not predictive of mode of inheritance but showed strong correlation with motor function and capacity tests including MFM-32 and 6MWT, respectively.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Músculo Esquelético
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Canal Liberador de Calcio Receptor de Rianodina
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Enfermedades Musculares
Tipo de estudio:
Guideline
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Neuromuscul Dis
Año:
2021
Tipo del documento:
Article
País de afiliación:
Estados Unidos