Tsargush V.A.1, Bardakov S.N.1, Bagnenko S.S.1, Zheleznyak I.S.1, Umakhanova Z.R.2,

Emelyantsev A.A.1, Shtencel R.E.3, Deev R.V.4,5, Isaev A.A.5

Purpose. To determine the MRI patterns of fatty muscle infiltration of the pelvic girdle and lower limbs in patients with limb-girdle muscular dystrophy type R1.

Materials and methods. 34 people were examined, including 14 patients with clinical manifestations of limb-girdle muscular dystrophy type R1 (LGMDR1). The control group consisted of 20 healthy volunteers. Clinical and genealogical analysis, neurological examination and laboratory-instrumental diagnostic methods were conducted. Molecular genetic studies of DNA samples were performed by full-exomic sequencing (NGS) on the IlluminaHiSeq 2000 platform, followed by confirmation of the results by Sanger sequencing. The MRI exams were performed with a high-field (1.5 T) tomograph (PHILIPS INGENIA) and a surface coil. The degree of muscle fatty infiltration was determined quantitatively based on a comparison of the relative signal intensity indicator D (D = T1 muscle / T1 subcutaneous fat layer) and semi-quantitatively by the E. Mercuri scale (2008).

Results. A significant predominance of the D and T1 values were present in patients with LGMDR1 in the posterior and medial groups of the thigh muscles, in the medial head of the calf and soleus muscle of the legs. In a semi-quantitative analysis using a gradation of fatty infiltration, an MR pattern was revealed. It is similar to the results obtained using the relative characteristics of D, T1. The characteristics of the “early”, “typical”, “late” and atypical “collagen-like” MR patterns are formulated.

Discussion. Formation of "early", "typical" and "late" MRI patterns of calpainopathy allows characterizing the staged modification of the distribution of fatty substitution of muscles during the progression of LGMDR1. The quantitative method (D, T1) cannot be effectively applied to assess dynamic changes in muscles in the early and late stages of LGMDR1 due to the absence of significant discrimination of stages 0–1–2a according to E. Mercuri and correlation with changes in the later stages of the disease.

Conclusion. A semi-quantitative analysis of the MR characteristics of fatty infiltration and trophic muscle changes during calpainopathies allowed us to identify a typical averaged pattern of predominant involvement of posterior and medial groups of thigh muscles, caput mediale m. gastrocnemii and solei with minimal manifestations of edema in the unaffected muscles.

1 ¬– Military Medical Academy. Saint Petersburg, Russia.

2 ¬– Dagestan State Medical University, of the Ministry of Health of Russia. Makhachkala, Russia.

3 – Almazov National Medical Research Centre. Saint Petersburg, Russia.

4 – North-Western State Medical University named after I.I. Mechnikov. Saint-Petersburg, Russia.

5 – Institute of Human Stem Cells (HSCI). Moscow, Russia.

Keywords: LGMDR1 / 2A, calpainopathy, MRI pattern, muscular dystrophy, CAPN3.


Corresponding author:  Tsargush V.A., e-mail: Этот e-mail адрес защищен от спам-ботов, для его просмотра у Вас должен быть включен Javascript .


For citation: Tsargush V.A., Bardakov S.N., Bagnenko S.S., Zheleznyak I.S., Umakhanova Z.R., Emelyantsev A.A., Shtencel R.E., Deev R.V., Isaev A.A. MRI-pattern changes in pelvic muscle and lower extremities in patients with limb-girdle muscular dystrophy R1/2A. REJR 2021; 11(4):60-74. DOI: 10.21569/2222-7415-2021-11-4-60-74.

Received:        05.03.20 Accepted:       23.09.21