20 research outputs found
Twenty-year clinical progression of dysferlinopathy in patients from Dagestan
Β© 2017 Umakhanova, Bardakov, Mavlikeev, Chernova, Magomedova, Akhmedova, Yakovlev, Dalgatov, Fedotov, Isaev and Deev.To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c.TG573/574AT; p. Val67Asp) was detected in the affected members of this family. Twenty years later, in this work, we re-examine five known and seven newly affected family members previously diagnosed with dysferlinopathy. We observed disease progression in family members who were previously diagnosed and noted obvious clinical polymorphism of the disease. A typical clinical case is provided
Corrigendum: Twenty-year clinical progression of dysferlinopathy in patients from Dagestan [Front Neurol, 8, (2017) (77)] doi: 10.3389/fneur.2017.00077
The "Funding" section should be: This work was funded by Human Stem Cells Institute PJSC and Roman V. Deev. Theoretical part of this work was supported by Russian Scientific Foundation grant (14-15-00916). Ivan A. Yakovlev and Mikhail O. Mavlikeev were supported by the Russian Government Program of Competitive Growth of Kazan Federal University. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way
Ethnic features of cerebral stroke in Dagestan
Held in the Republic of Dagestan in 2011 stroke registry has allowed to establish indicators of morbidity, mortality and case fatality rate of stroke for different nationalities living on the territory of Dagestan. The highest parameters of morbidity have kumyks β 5,36, then the nogais - 4,91, lezgins - 3,63, russian - 3,39, dargins - 3,32, laks - 2,85, avars - 2,27. The highest mortality rates in the nogay - cache, then in descending order follow the kumyks - 2,07, russian -1,28, dargins - 0,96, lezgins - 0,86, laks - 0,83, the lowest indicators in the avar - 0,8. The highest case lethality of the nogai - 50,0%, the kumyks - 43,93%, the russians β 42,63%, the avars - 39,24%, dargin - 36,14%, laktsev - 35,16%, lezgin - 27,4%ΠΡΠΎΠ²ΠΎΠ΄ΠΈΠΌΡΠΉ Π² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ Π² 2011 Π³. ΡΠ΅Π³ΠΈΡΡΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΏΠΎΠ·Π²ΠΎΠ»ΠΈΠ» ΡΡΡΠ°Π½ΠΎΠ²ΠΈΡΡ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ Π±ΠΎΠ»Π΅Π·Π½Π΅Π½Π½ΠΎΡΡΠΈ, ΡΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ ΠΈ Π»Π΅ΡΠ°Π»ΡΠ½ΠΎΡΡΠΈ ΡΠ΅ΡΠ΅Π±ΡΠ°Π»ΡΠ½ΡΠΌ ΠΈΠ½ΡΡΠ»ΡΡΠΎΠΌ Ρ ΡΠ°Π·Π½ΡΡ
Π½Π°ΡΠΈΠΎΠ½Π°Π»ΡΠ½ΠΎΡΡΠ΅ΠΉ ΠΏΡΠΎΠΆΠΈΠ²Π°ΡΡΠΈΡ
Π½Π° ΡΠ΅ΡΡΠΈΡΠΎΡΠΈΠΈ ΠΠ°Π³Π΅ΡΡΠ°Π½Π°. Π‘Π°ΠΌΡΠ΅ Π²ΡΡΠΎΠΊΠΈΠ΅ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ Π±ΠΎΠ»Π΅Π·Π½Π΅Π½Π½ΠΎΡΡΠΈ ΠΎΡΠΌΠ΅ΡΠ°ΡΡΡΡ Ρ ΠΊΡΠΌΡΠΊΠΎΠ² - 5,36, Π·Π°ΡΠ΅ΠΌ ΡΠ»Π΅Π΄ΡΡΡ Π½ΠΎΠ³Π°ΠΉΡΡ - 4,91, Π»Π΅Π·Π³ΠΈΠ½Ρ β 3,63, ΡΡΡΡΠΊΠΈΠ΅ - 3,39, Π΄Π°ΡΠ³ΠΈΠ½ΡΡ - 3,32, Π»Π°ΠΊΡΡ - 2,85, Π°Π²Π°ΡΡΡ - 2,27. Π‘Π°ΠΌΠ°Ρ Π²ΡΡΠΎΠΊΠ°Ρ ΡΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ ΠΎΡΠΌΠ΅ΡΠ°Π΅ΡΡΡ Ρ Π½ΠΎΠ³Π°ΠΉΡΠ΅Π² β 2,26, Π·Π°ΡΠ΅ΠΌ ΠΏΠΎ ΡΠ±ΡΠ²Π°Π½ΠΈΡ ΡΠ»Π΅Π΄ΡΡΡ ΠΊΡΠΌΡΠΊΠΈ - 2,07, ΡΡΡΡΠΊΠΈΠ΅ -1,28, Π΄Π°ΡΠ³ΠΈΠ½ΡΡ - 0,96, Π»Π΅Π·Π³ΠΈΠ½Ρ - 0,86, Π»Π°ΠΊΡΡ - 0,83, Π½Π°ΠΈΠΌΠ΅Π½ΡΡΠΈΠ΅ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ Ρ Π°Π²Π°ΡΡΠ΅Π² - 0,8 Π½Π° 1000 Π½Π°ΡΠ΅Π»Π΅Π½ΠΈΡ. Π‘Π°ΠΌΠ°Ρ Π²ΡΡΠΎΠΊΠ°Ρ Π»Π΅ΡΠ°Π»ΡΠ½ΠΎΡΡΡ Ρ Π½ΠΎΠ³Π°ΠΉΡΠ΅Π² - 50,0%, Ρ ΠΊΡΠΌΡΠΊΠΎΠ² - 43,93%, Ρ ΡΡΡΡΠΊΠΈΡ
- 42,63%, Ρ Π°Π²Π°ΡΡΠ΅Π² - 39,24%, Π΄Π°ΡΠ³ΠΈΠ½ΡΠ΅Π² - 36,14%, Π»Π°ΠΊΡΠ΅Π² - 35,16%, Π»Π΅Π·Π³ΠΈΠ½ - 27,4%
Ethnic features of the major risk factors for cerebral stroke in Dagestan
Held in the Republic of Dagestan in 2011 stroke registry allowed to establish the main factors of development of a stroke in a different nationalities. The highest number of risk factors of a stroke occurs in the Russian - 2,37, followed by kumyks β 2,24, lezgins - 2,06, laks - 2,04, dargins -1,92, avars -1,87 and the smallest number of risk factors have nogai -1,65.ΠΡΠΎΠ²Π΅Π΄Π΅Π½Π½ΡΠΉ Π² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ Π² 2011 Π³ΠΎΠ΄Ρ ΡΠ΅Π³ΠΈΡΡΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΏΠΎΠ·Π²ΠΎΠ»ΠΈΠ» ΡΡΡΠ°Π½ΠΎΠ²ΠΈΡΡ ΠΎΡΠ½ΠΎΠ²Π½ΡΠ΅ ΡΠ°ΠΊΡΠΎΡΡ ΡΠ°Π·Π²ΠΈΡΠΈΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° Ρ ΡΠ°Π·Π½ΡΡ
Π½Π°ΡΠΈΠΎΠ½Π°Π»ΡΠ½ΠΎΡΡΠ΅ΠΉ. ΠΠ°ΠΈΠ±ΠΎΠ»Π΅Π΅ Π²ΡΡΠΎΠΊΠΎΠ΅ ΠΊΠΎΠ»ΠΈΡΠ΅ΡΡΠ²ΠΎ ΡΠ°ΠΊΡΠΎΡΠΎΠ² ΡΠΈΡΠΊΠ° ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΎΡΠΌΠ΅ΡΠ°Π΅ΡΡΡ Ρ ΡΡΡΡΠΊΠΈΡ
β 2,37, Π·Π°ΡΠ΅ΠΌ ΡΠ»Π΅Π΄ΡΡΡ ΠΊΡΠΌΡΠΊΠΈ - 2,24, Π»Π΅Π·Π³ΠΈΠ½Ρ - 2,06, Π»Π°ΠΊΡΡ - 2,04, Π΄Π°ΡΠ³ΠΈΠ½ΡΡ -1,92, Π°Π²Π°ΡΡΡ -1 ,8 7 ΠΈ Π½Π°ΠΈΠΌΠ΅Π½ΡΡΠ΅Π΅ ΠΊΠΎΠ»ΠΈΡΠ΅ΡΡΠ²ΠΎ ΡΠ°ΠΊΡΠΎΡΠΎΠ² ΡΠΈΡΠΊΠ° Ρ Π½ΠΎΠ³Π°ΠΉΡΠ΅Π² -1,65
The clinical case of limb-girdle muscle dystrophy 2Q associated with myasthenic syndrome and lung damage
Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20β21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q
Gender peculiarities of cerebral stroke in Dagestan
In the course of 2010 in the Republic of Dagestan of cerebral stroke hurt men 1787 (52%), women 1630 (48%).The incidence among men - 2,61, among women - 2,02. Mortality among men - 0,95, among women is 0.81. Mortality among men - 36,34%, among women - 40,38%. The average age of first stroke in men of 64.6 years, in women with 68.4 years.Π ΡΠ΅ΡΠ΅Π½ΠΈΠ΅ 2010 Π³ΠΎΠ΄Π° Π² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ ΡΠ΅ΡΠ΅Π±ΡΠ°Π»ΡΠ½ΡΠΌ ΠΈΠ½ΡΡΠ»ΡΡΠΎΠΌ Π·Π°Π±ΠΎΠ»Π΅Π»ΠΎ ΠΌΡΠΆΡΠΈΠ½ 1787 (52%), ΠΆΠ΅Π½ΡΠΈΠ½ 1630 (48%). ΠΠ°Π±ΠΎΠ»Π΅Π²Π°Π΅ΠΌΠΎΡΡΡ ΡΡΠ΅Π΄ΠΈ ΠΌΡΠΆΡΠΈΠ½ - 2,61, ΡΡΠ΅Π΄ΠΈ ΠΆΠ΅Π½ΡΠΈΠ½ - 2,02. Π‘ΠΌΠ΅ΡΡΠ½ΠΎΡΡΡ ΡΡΠ΅Π΄ΠΈ ΠΌΡΠΆΡΠΈΠ½ - 0,95, ΡΡΠ΅Π΄ΠΈ ΠΆΠ΅Π½ΡΠΈΠ½ - 0,81. ΠΠ΅ΡΠ°Π»ΡΠ½ΠΎΡΡΡ ΡΡΠ΅Π΄ΠΈ ΠΌΡΠΆΡΠΈΠ½ - 36,34%, ΡΡΠ΅Π΄ΠΈ ΠΆΠ΅Π½ΡΠΈΠ½ - 40,38%. Π‘ΡΠ΅Π΄Π½ΠΈΠΉ Π²ΠΎΠ·ΡΠ°ΡΡ Π½Π°ΡΠ°Π»Π° ΠΈΠ½ΡΡΠ»ΡΡΠ° Ρ ΠΌΡΠΆΡΠΈΠ½ 64,6 Π»Π΅Ρ, Ρ ΠΆΠ΅Π½ΡΠΈΠ½ 68,4 Π»Π΅Ρ
Analysis of risk factors for stroke in the plains and the mountains of Dagestan
Analysis of risk factors for stroke in the Republic of Dagestan has revealed that the indices of all the risk factors above in the plains, and risk factors such as diabetes, high cholesterol level and stress was significantly higher in the plain to all types of stroke, both in men and in women.ΠΠ½Π°Π»ΠΈΠ· ΡΠ°ΠΊΡΠΎΡΠΎΠ² ΡΠΈΡΠΊΠ° ΡΠ΅ΡΠ΅Π±ΡΠ°Π»ΡΠ½ΠΎΠ³ΠΎ ΠΈΠ½ΡΡΠ»ΡΡΠ° Π² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ Π²ΡΡΠ²ΠΈΠ», ΡΡΠΎ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ Π²ΡΠ΅Ρ
ΡΠ°ΠΊΡΠΎΡΠΎΠ² ΡΠΈΡΠΊΠ° Π²ΡΡΠ΅ Π² ΡΠ°Π²Π½ΠΈΠ½Π½ΠΎΠΉ Π·ΠΎΠ½Π΅, Π° ΡΠ°ΠΊΠΈΠ΅ ΡΠ°ΠΊΡΠΎΡΡ ΡΠΈΡΠΊΠ° ΠΊΠ°ΠΊ ΡΠ°Ρ
Π°ΡΠ½ΡΠΉ Π΄ΠΈΠ°Π±Π΅Ρ, Π΄ΠΈΡΠ»ΠΈΠΏΠΎΠΏΡΠΎΡΠ΅ΠΈΠ΄Π΅ΠΌΠΈΠΈ ΠΈ ΡΡΡΠ΅ΡΡ Π΄ΠΎΡΡΠΎΠ²Π΅ΡΠ½ΠΎ Π²ΡΡΠ΅ Π½Π° ΡΠ°Π²Π½ΠΈΠ½Π΅ ΡΡΠ΅Π΄ΠΈ Π²ΡΠ΅Ρ
ΡΠΈΠΏΠΎΠ² ΠΈΠ½ΡΡΠ»ΡΡΠ°, ΠΊΠ°ΠΊ Ρ ΠΌΡΠΆΡΠΈΠ½, ΡΠ°ΠΊ ΠΈ Ρ ΠΆΠ΅Π½ΡΠΈΠ½
Mortality and lethality mortality in stroke in Dagestan
Held in Dagestan in 2010 stroke registry has allowed to establish indicators of mortality and case fatality rate for all types of stroke among urban and rural population, among all nationalities, as well as in all age groups. The standardized death rate from stroke for the Republic of Dagestan 0,54, in the cities of 0,53, in rural areas of 0,55. Total lethality in the Republic of Dagestan β 38,27%, in cities - 32,57%, in a countryside - 42,87%.ΠΡΠΎΠ²ΠΎΠ΄ΠΈΠΌΡΠΉ Π² ΠΠ°Π³Π΅ΡΡΠ°Π½Π΅ Π² 2010 Π³ΠΎΠ΄Ρ ΡΠ΅Π³ΠΈΡΡΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΏΠΎΠ·Π²ΠΎΠ»ΠΈΠ» ΡΡΡΠ°Π½ΠΎΠ²ΠΈΡΡ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ ΡΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ ΠΈ Π»Π΅ΡΠ°Π»ΡΠ½ΠΎΡΡΠΈ ΠΏΡΠΈ Π²ΡΠ΅Ρ
ΡΠΈΠΏΠ°Ρ
ΠΈΠ½ΡΡΠ»ΡΡΠ° ΡΡΠ΅Π΄ΠΈ Π³ΠΎΡΠΎΠ΄ΡΠΊΠΎΠ³ΠΎ ΠΈ ΡΠ΅Π»ΡΡΠΊΠΎΠ³ΠΎ Π½Π°ΡΠ΅Π»Π΅Π½ΠΈΡ, ΡΡΠ΅Π΄ΠΈ Π²ΡΠ΅Ρ
Π½Π°ΡΠΈΠΎΠ½Π°Π»ΡΠ½ΠΎΡΡΠ΅ΠΉ, Π° ΡΠ°ΠΊΠΆΠ΅ Π²ΠΎ Π²ΡΠ΅Ρ
Π²ΠΎΠ·ΡΠ°ΡΡΠ½ΡΡ
Π³ΡΡΠΏΠΏΠ°Ρ
. Π‘ΡΠ°Π½Π΄Π°ΡΡΠΈΠ·ΠΈΡΠΎΠ²Π°Π½Π½ΡΠΉ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»Ρ ΡΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ ΠΎΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΏΠΎ Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ ΡΠΎΡΡΠ°Π²ΠΈΠ» 0,54, Π² Π³ΠΎΡΠΎΠ΄Π°Ρ
0,53, Π² ΡΠ΅Π»ΡΡΠΊΠΎΠΉ ΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ 0,55. ΠΠ±ΡΠ°Ρ Π»Π΅ΡΠ°Π»ΡΠ½ΠΎΡΡΡ ΠΏΠΎ Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ - 38,27%, Π² Π³ΠΎΡΠΎΠ΄Π°Ρ
- 32,57%, Π² ΡΠ΅Π»ΡΡΠΊΠΎΠΉ ΠΌΠ΅ΡΡΠ½ΠΎΡΡΠΈ -42,87%
The incidence of stroke in Dagestan
Results are presented for the first time conducted an epidemiological study. Held in Dagestan in 2010 stroke registry has allowed to establish the incidence of stroke among urban and rural population, and among all ethnic groups, as well as in all age groups. For 2010 stroke hurt 3413 people. Morbidity in the Republic of Dagestan amounted to 2,79. The proportion of ischemic stroke in 2010,72%, a hemorrhagic 20,3%, undifferentiated of 7.7%. The average age of first stroke in 2010 was 66,43 years.ΠΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Ρ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ Π²ΠΏΠ΅ΡΠ²ΡΠ΅ ΠΏΡΠΎΠ²ΠΎΠ΄ΠΈΠΌΠΎΠ³ΠΎ ΡΠΏΠΈΠ΄Π΅ΠΌΠΈΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΡ. ΠΡΠΎΠ²ΠΎΠ΄ΠΈΠΌΡΠΉ Π² ΠΠ°Π³Π΅ΡΡΠ°Π½Π΅ Π² 2010 Π³ΠΎΠ΄Ρ ΡΠ΅Π³ΠΈΡΡΡ ΠΈΠ½ΡΡΠ»ΡΡΠ° ΠΏΠΎΠ·Π²ΠΎΠ»ΠΈΠ» ΡΡΡΠ°Π½ΠΎΠ²ΠΈΡΡ ΠΏΠΎΠΊΠ°Π·Π°ΡΠ΅Π»ΠΈ Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π΅ΠΌΠΎΡΡΠΈ ΠΈΠ½ΡΡΠ»ΡΡΠΎΠΌ ΡΡΠ΅Π΄ΠΈ Π³ΠΎΡΠΎΠ΄ΡΠΊΠΎΠ³ΠΎ ΠΈ ΡΠ΅Π»ΡΡΠΊΠΎΠ³ΠΎ Π½Π°ΡΠ΅Π»Π΅Π½ΠΈΡ, ΡΡΠ΅Π΄ΠΈ Π²ΡΠ΅Ρ
Π½Π°ΡΠΈΠΎΠ½Π°Π»ΡΠ½ΠΎΡΡΠ΅ΠΉ, Π° ΡΠ°ΠΊΠΆΠ΅ Π²ΠΎ Π²ΡΠ΅Ρ
Π²ΠΎΠ·ΡΠ°ΡΡΠ½ΡΡ
Π³ΡΡΠΏΠΏΠ°Ρ
. ΠΠ° 2010 Π³ΠΎΠ΄ ΠΈΠ½ΡΡΠ»ΡΡΠ°ΠΌΠΈ Π·Π°Π±ΠΎΠ»Π΅Π»ΠΎ 3413 ΡΠ΅Π»ΠΎΠ²Π΅ΠΊ. ΠΠ°Π±ΠΎΠ»Π΅Π²Π°Π΅ΠΌΠΎΡΡΡ Π² Π Π΅ΡΠΏΡΠ±Π»ΠΈΠΊΠ΅ ΠΠ°Π³Π΅ΡΡΠ°Π½ ΡΠΎΡΡΠ°Π²ΠΈΠ»Π° 2,79. ΠΠΎΠ»Ρ ΠΈΡΠ΅ΠΌΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΈΠ½ΡΡΠ»ΡΡΠ° Π² 2010 Π³ΠΎΠ΄Ρ - 72%, Π³Π΅ΠΌΠΎΡΡΠ°Π³ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ 20,3%, Π½Π΅Π΄ΠΈΡΡΠ΅ΡΠ΅Π½ΡΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠ³ΠΎ 7,7%. Π‘ΡΠ΅Π΄Π½ΠΈΠΉ Π²ΠΎΠ·ΡΠ°ΡΡ Π½Π°ΡΠ°Π»Π° ΠΈΠ½ΡΡΠ»ΡΡΠ° Π² 2010 ΡΠΎΡΡΠ°Π²ΠΈΠ» 66,43 Π»Π΅Ρ
ΠΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠΉ ΡΠ»ΡΡΠ°ΠΉ ΠΏΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π΄ΠΈΡΡΡΠΎΡΠΈΠΈ 2Q, Π°ΡΡΠΎΡΠΈΠΈΡΠΎΠ²Π°Π½Π½ΠΎΠΉ Ρ ΠΌΠΈΠ°ΡΡΠ΅Π½ΠΈΡΠ΅ΡΠΊΠΈΠΌ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΠΈ ΠΏΠΎΡΠ°ΠΆΠ΅Π½ΠΈΠ΅ΠΌ Π»Π΅Π³ΠΊΠΈΡ
Limb-girdle muscle dystrophy 2Q is one of the rarest forms of plectinopathies and is represented by an isolated muscular dystrophic syndrome, according to two previously described literature reports. There are five forms of plectinopathies, including limb-girdle muscle dystrophy 2Q, are caused by mutations in the PLEC gene, the alternative splicing of which determines the synthesis of 9 isoforms of the plectin protein (1, 1a, 1b, 1c, 1d, 1e, 1f, 1g, 3) performing cytolinker function in the neuronal, epithelial and muscle tissue.The article describes the family observation of three sick siblings with the limb-girdle muscle dystrophy 2Q phenotype due to the presence of a new homozygous mutation (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) in the isoform 1f PLEC revealed by whole-exome sequencing. Clinical, electromyography, visualization and histopathological features of limb-girdle muscle dystrophy 2Q were analyzed in detail. The onset of clinical manifestations in all the described siblings was observed in early childhood with moderate weakness mainly in the pelvic girdle muscles and proximal lower limbs with minimal involvement of the muscles of the shoulder girdle. A distinctive aspect is the stagnation of the myodystrophic process until 20β21 years, followed by the progression and development of episodes of respiratory failure, as well as the formation of rigidity of the cervical, thoracic spine and moderate contracture of the Achilles tendons. Typical features are marked atrophy of paravertebral muscles with the formation of pterygoid scapula and the presence of hypertrophy m. gastrocnemius, m. quadriceps femoris, m. deltoideus and m. triceps brachii. Histopathological examination m. vastus lateralis revealed myodystrophic process without inflammatory infiltration, muscle fiber cytoskeleton disorganization resulted from the plectin loss.Electrocardiography signs of the early repolarization syndrome, focal cardiosclerosis and sinus tachycardia are described. For the first time, involvement in the pathological process of pulmonary tissue in the form of noninfectious bronchiolitis, atelectasis, and the development of the myasthenic syndrome causing episodes of respiratory failure resulted in the death of two described siblings aged 29 and 31 years. Discussed pathogenetic role of PLEC 1f isoform in the development of described syndromes, expands understanding of rare nosology limb-girdle muscle dystrophy 2Q.ΠΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½Π°Ρ ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π΄ΠΈΡΡΡΠΎΡΠΈΡ 2Q ΡΠ²Π»ΡΠ΅ΡΡΡ ΠΎΠ΄Π½ΠΎΠΉ ΠΈΠ· Π½Π°ΠΈΠ±ΠΎΠ»Π΅Π΅ ΡΠ΅Π΄ΠΊΠΈΡ
ΡΠΎΡΠΌ ΠΏΠ»Π΅ΠΊΡΠΈΠ½ΠΎΠΏΠ°ΡΠΈΠΉ ΠΈ ΠΏΡΠΎΡΠ²Π»ΡΠ΅ΡΡΡ ΠΈΠ·ΠΎΠ»ΠΈΡΠΎΠ²Π°Π½Π½ΡΠΌ ΠΌΡΡΠ΅ΡΠ½ΡΠΌ Π΄ΠΈΡΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΈΠΌ ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠΌ ΡΠΎΠ³Π»Π°ΡΠ½ΠΎ Π΄Π²ΡΠΌ ΡΠ°Π½Π΅Π΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½Π½ΡΠΌ Π² Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΠ΅ ΠΎΠΏΠΈΡΠ°Π½ΠΈΡΠΌ. ΠΡΡΡ ΡΡΡΠ΅ΡΡΠ²ΡΡΡΠΈΡ
ΡΠΎΡΠΌ ΠΏΠ»Π΅ΠΊΡΠΈΠ½ΠΎΠΏΠ°ΡΠΈΠΉ, Π² ΡΠΎΠΌ ΡΠΈΡΠ»Π΅ ΠΏΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½Π°Ρ ΠΌΡΡΠ΅ΡΠ½Π°Ρ Π΄ΠΈΡΡΡΠΎΡΠΈΡ 2Q, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Ρ ΠΌΡΡΠ°ΡΠΈΡΠΌΠΈ Π² Π³Π΅Π½Π΅ PLEC, Π°Π»ΡΡΠ΅ΡΠ½Π°ΡΠΈΠ²Π½ΡΠΉ ΡΠΏΠ»Π°ΠΉΡΠΈΠ½Π³ ΠΊΠΎΡΠΎΡΠΎΠ³ΠΎ ΠΎΠΏΡΠ΅Π΄Π΅Π»ΡΠ΅Ρ ΡΠΈΠ½ΡΠ΅Π· 9 ΠΈΠ·ΠΎΡΠΎΡΠΌ Π±Π΅Π»ΠΊΠ° ΠΏΠ»Π΅ΠΊΡΠΈΠ½Π° (1, 1Π°, 1b, 1c, 1d, 1Π΅, 1f,1g, 3), Π²ΡΠΏΠΎΠ»Π½ΡΡΡΠΈΡ
ΡΠΈΡΠΎΠ»ΠΈΠ½ΠΊΠ΅ΡΠ½ΡΡ ΡΡΠ½ΠΊΡΠΈΡ Π² Π½Π΅ΠΉΡΠΎΠ½Π°Π»ΡΠ½ΠΎΠΉ, ΡΠΏΠΈΡΠ΅Π»ΠΈΠ°Π»ΡΠ½ΠΎΠΉ ΠΈ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ ΡΠΊΠ°Π½ΡΡ
.Π ΡΡΠ°ΡΡΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΎ ΠΎΠΏΠΈΡΠ°Π½ΠΈΠ΅ ΡΠ΅ΠΌΠ΅ΠΉΠ½ΠΎΠ³ΠΎ Π½Π°Π±Π»ΡΠ΄Π΅Π½ΠΈΡ 3 Π±ΠΎΠ»ΡΠ½ΡΡ
ΡΠΈΠ±ΡΠΎΠ² Ρ ΠΏΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π΄ΠΈΡΡΡΠΎΡΠΈΠ΅ΠΉ 2Q, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»Π΅Π½Π½ΠΎΠ³ΠΎ Π½Π°Π»ΠΈΡΠΈΠ΅ΠΌ Π½ΠΎΠ²ΠΎΠΉ Π³ΠΎΠΌΠΎΠ·ΠΈΠ³ΠΎΡΠ½ΠΎΠΉ ΠΌΡΡΠ°ΡΠΈΠΈ (NM_201378.3:c.58G>T, NP_958780.1:p.Glu20Ter) Π² ΠΈΠ·ΠΎΡΠΎΡΠΌΠ΅ 1f Π³Π΅Π½Π° PLEC, Π²ΡΡΠ²Π»Π΅Π½Π½ΠΎΠΉ Ρ ΠΏΠΎΠΌΠΎΡΡΡ ΠΏΠΎΠ»Π½ΠΎΡΠΊΠ·ΠΎΠΌΠ½ΠΎΠ³ΠΎ ΡΠ΅ΠΊΠ²Π΅Π½ΠΈΡΠΎΠ²Π°Π½ΠΈΡ. ΠΠ΅ΡΠ°Π»ΡΠ½ΠΎ ΠΏΡΠΎΠ°Π½Π°Π»ΠΈΠ·ΠΈΡΠΎΠ²Π°Π½Ρ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΠ΅, ΡΠ»Π΅ΠΊΡΡΠΎΠ½Π΅ΠΉΡΠΎΠΌΠΈΠΎΠ³ΡΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅, Π²ΠΈΠ·ΡΠ°Π»ΠΈΠ·Π°ΡΠΈΠΎΠ½Π½ΡΠ΅ ΠΈ ΠΏΠ°ΡΠΎΠ³ΠΈΡΡΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΎΡΠΎΠ±Π΅Π½Π½ΠΎΡΡΠΈ ΠΏΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π΄ΠΈΡΡΡΠΎΡΠΈΠΈ 2Q. ΠΠ΅Π±ΡΡ ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΠΈΡ
ΠΏΡΠΎΡΠ²Π»Π΅Π½ΠΈΠΉ Ρ Π²ΡΠ΅Ρ
ΠΎΠΏΠΈΡΠ°Π½Π½ΡΡ
ΡΠ»Π΅Π½ΠΎΠ² ΡΠ΅ΠΌΡΠΈ Π½Π°Π±Π»ΡΠ΄Π°Π»ΡΡ Π² ΡΠ°Π½Π½Π΅ΠΌ Π΄Π΅ΡΡΠΊΠΎΠΌ Π²ΠΎΠ·ΡΠ°ΡΡΠ΅ Π² Π²ΠΈΠ΄Π΅ ΡΠΌΠ΅ΡΠ΅Π½Π½ΠΎΠΉ ΡΠ»Π°Π±ΠΎΡΡΠΈ ΠΏΡΠ΅ΠΈΠΌΡΡΠ΅ΡΡΠ²Π΅Π½Π½ΠΎ ΠΌΡΡΡ ΡΠ°Π·ΠΎΠ²ΠΎΠ³ΠΎ ΠΏΠΎΡΡΠ° ΠΈ ΠΏΡΠΎΠΊΡΠΈΠΌΠ°Π»ΡΠ½ΡΡ
ΠΎΡΠ΄Π΅Π»ΠΎΠ² Π½ΠΎΠ³ Ρ ΠΌΠΈΠ½ΠΈΠΌΠ°Π»ΡΠ½ΡΠΌ Π²ΠΎΠ²Π»Π΅ΡΠ΅Π½ΠΈΠ΅ΠΌ ΠΌΡΡΡ ΠΏΠ»Π΅ΡΠ΅Π²ΠΎΠ³ΠΎ ΠΏΠΎΡΡΠ°. ΠΡΠ»ΠΈΡΠΈΡΠ΅Π»ΡΠ½ΡΠΌ Π°ΡΠΏΠ΅ΠΊΡΠΎΠΌ ΡΠ²Π»ΡΠ΅ΡΡΡ ΡΡΠ°Π³Π½Π°ΡΠΈΡ ΠΌΠΈΠΎΠ΄ΠΈΡΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΎΡΠ΅ΡΡΠ° Π΄ΠΎ 20β21 Π³ΠΎΠ΄Π° Ρ ΠΏΠΎΡΠ»Π΅Π΄ΡΡΡΠΈΠΌ ΠΏΡΠΎΠ³ΡΠ΅ΡΡΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΈ ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ΠΌ ΡΠΏΠΈΠ·ΠΎΠ΄ΠΎΠ² Π΄ΡΡ
Π°ΡΠ΅Π»ΡΠ½ΠΎΠΉ Π½Π΅Π΄ΠΎΡΡΠ°ΡΠΎΡΠ½ΠΎΡΡΠΈ, Π° ΡΠ°ΠΊΠΆΠ΅ ΡΠΎΡΠΌΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΡΠΈΠ³ΠΈΠ΄Π½ΠΎΡΡΠΈ ΡΠ΅ΠΉΠ½ΠΎΠ³ΠΎ, Π³ΡΡΠ΄Π½ΠΎΠ³ΠΎ ΠΎΡΠ΄Π΅Π»Π° ΠΏΠΎΠ·Π²ΠΎΠ½ΠΎΡΠ½ΠΈΠΊΠ° ΠΈ ΡΠΌΠ΅ΡΠ΅Π½Π½ΠΎΠΉ ΠΊΠΎΠ½ΡΡΠ°ΠΊΡΡΡΡ Π°Ρ
ΠΈΠ»Π»ΠΎΠ²ΡΡ
ΡΡΡ
ΠΎΠΆΠΈΠ»ΠΈΠΉ. Π₯Π°ΡΠ°ΠΊΡΠ΅ΡΠ½ΡΠΌΠΈ ΡΠ²Π»ΡΡΡΡΡ Π²ΡΡΠ°ΠΆΠ΅Π½Π½Π°Ρ Π°ΡΡΠΎΡΠΈΡ mm. paravertebralis Ρ ΡΠΎΡΠΌΠΈΡΠΎΠ²Π°Π½ΠΈΠ΅ΠΌ ΠΊΡΡΠ»ΠΎΠ²ΠΈΠ΄Π½ΡΡ
Π»ΠΎΠΏΠ°ΡΠΎΠΊ ΠΈ Π½Π°Π»ΠΈΡΠΈΠ΅ Π³ΠΈΠΏΠ΅ΡΡΡΠΎΡΠΈΠΈ m. gastrocnemius, m. quadriceps femoris, m. deltoideus ΠΈ m. triceps brachii. ΠΠ°ΡΠΎΠ³ΠΈΡΡΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΎΠ΅ ΠΈΡΡΠ»Π΅Π΄ΠΎΠ²Π°Π½ΠΈΠ΅ m. vastus lateralis ΠΎΡΡΠ°ΠΆΠ°Π΅Ρ Π½Π°Π»ΠΈΡΠΈΠ΅ ΠΌΠΈΠΎΠ΄ΠΈΡΡΡΠΎΡΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΠΏΡΠΎΡΠ΅ΡΡΠ° Π±Π΅Π· Π²ΠΎΡΠΏΠ°Π»ΠΈΡΠ΅Π»ΡΠ½ΠΎΠΉ ΠΈΠ½ΡΠΈΠ»ΡΡΡΠ°ΡΠΈΠΈ, Π΄Π΅Π·ΠΎΡΠ³Π°Π½ΠΈΠ·Π°ΡΠΈΡ ΡΠΈΡΠΎΡΠΊΠ΅Π»Π΅ΡΠ° ΠΌΡΡΠ΅ΡΠ½ΡΡ
Π²ΠΎΠ»ΠΎΠΊΠΎΠ½ ΠΈ ΡΡΡΠ°ΡΡ ΠΏΠ»Π΅ΠΊΡΠΈΠ½Π°. ΠΠΏΠΈΡΠ°Π½Ρ ΡΠ»Π΅ΠΊΡΡΠΎΠΊΠ°ΡΠ΄ΠΈΠΎΠ³ΡΠ°ΡΠΈΡΠ΅ΡΠΊΠΈΠ΅ ΠΏΡΠΈΠ·Π½Π°ΠΊΠΈ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ° ΡΠ°Π½Π½Π΅ΠΉ ΡΠ΅ΠΏΠΎΠ»ΡΡΠΈΠ·Π°ΡΠΈΠΈ, ΠΎΡΠ°Π³ΠΎΠ²ΠΎΠ³ΠΎ ΠΊΠ°ΡΠ΄ΠΈΠΎΡΠΊΠ»Π΅ΡΠΎΠ·Π° ΠΈ ΡΠΈΠ½ΡΡΠΎΠ²ΠΎΠΉ ΡΠ°Ρ
ΠΈΠΊΠ°ΡΠ΄ΠΈΠΈ. ΠΠΏΠ΅ΡΠ²ΡΠ΅ Π² Π»ΠΈΡΠ΅ΡΠ°ΡΡΡΠ΅ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΎ ΡΠΎΡΠ΅ΡΠ°Π½ΠΈΠ΅ ΠΏΠΎΡΡ-Π½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π΄ΠΈΡΡΡΠΎΡΠΈΠΈ 2Q Ρ ΠΏΠΎΡΠ°ΠΆΠ΅Π½ΠΈΠ΅ΠΌ Π»Π΅Π³ΠΊΠΈΡ
Π² Π²ΠΈΠ΄Π΅ Π½Π΅ΠΈΠ½ΡΠ΅ΠΊΡΠΈΠΎΠ½Π½ΠΎΠ³ΠΎ Π±ΡΠΎΠ½Ρ
ΠΈΠΎΠ»ΠΈΡΠ°, Π°ΡΠ΅Π»Π΅ΠΊΡΠ°Π·ΠΎΠ² ΠΈ ΡΠ°Π·Π²ΠΈΡΠΈΠ΅ΠΌ ΠΌΠΈΠ°ΡΡΠ΅Π½ΠΈΡΠ΅ΡΠΊΠΎΠ³ΠΎ ΡΠΈΠ½Π΄ΡΠΎΠΌΠ°, ΠΎΠ±ΡΡΠ»ΠΎΠ²Π»ΠΈΠ²Π°ΡΡΠΈΠΌΠΈ ΡΠΏΠΈΠ·ΠΎΠ΄Ρ Π΄ΡΡ
Π°ΡΠ΅Π»ΡΠ½ΠΎΠΉ Π½Π΅Π΄ΠΎΡΡΠ°ΡΠΎΡΠ½ΠΎΡΡΠΈ ΠΈ ΠΏΠΎΠ²Π»Π΅ΠΊΡΠΈΠ΅ ΡΠΌΠ΅ΡΡΡ 2 ΠΎΠΏΠΈΡΡΠ²Π°Π΅ΠΌΡΡ
ΡΠΈΠ±ΡΠΎΠ² Π² Π²ΠΎΠ·ΡΠ°ΡΡΠ΅ 29 ΠΈ 31 Π³ΠΎΠ΄Π°. ΠΠ±ΡΡΠΆΠ΄Π°Π΅ΠΌΠΎΠ΅ ΠΏΠ°ΡΠΎΠ³Π΅Π½Π΅ΡΠΈΡΠ΅ΡΠΊΠΎΠ΅ Π·Π½Π°ΡΠ΅Π½ΠΈΠ΅ 1f-ΠΈΠ·ΠΎΡΠΎΡΠΌΡ ΠΏΠ»Π΅ΠΊΡΠΈΠ½Π° Π² ΡΠ°Π·Π²ΠΈΡΠΈΠΈ ΠΎΠΏΠΈΡΠ°Π½Π½ΡΡ
ΡΠΈΠ½Π΄ΡΠΎΠΌΠΎΠ² ΠΏΠΎΠ·Π²ΠΎΠ»ΡΠ΅Ρ ΡΠ°ΡΡΠΈΡΠΈΡΡ ΠΏΡΠ΅Π΄ΡΡΠ°Π²Π»Π΅Π½ΠΈΠ΅ ΠΎ ΡΠ΅Π΄ΠΊΠΎΠΉ Π½ΠΎΠ·ΠΎΠ»ΠΎΠ³ΠΈΠΈ β ΠΏΠΎΡΡΠ½ΠΎ-ΠΊΠΎΠ½Π΅ΡΠ½ΠΎΡΡΠ½ΠΎΠΉ ΠΌΡΡΠ΅ΡΠ½ΠΎΠΉ Π΄ΠΈΡΡΡΠΎΡΠΈΠΈ 2Q