TY - JOUR

T1 - Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report

AU - Bardakov, Sergey N.

AU - Titova, Angelina A.

AU - Nikitin, Sergey S.

AU - Nikitins, Valentin

AU - Sokolova, Margarita O.

AU - Tsargush, Vadim A.

AU - Yuhno, Elena A.

AU - Vetrovoj, Oleg V.

AU - Carlier, Pierre G.

AU - Sofronova, Yana V.

AU - Isaev, Аrtur А.

AU - Deev, Roman V.

PY - 2024/2/16

Y1 - 2024/2/16

N2 - BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.CASE PRESENTATION: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers.CONCLUSIONS: This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity.

AB - BACKGROUND: Dysferlinopathy is a phenotypically heterogeneous group of hereditary diseases caused by mutations in the DYSF gene. Early contractures are considered rare, and rigid spine syndrome in dysferlinopathy has been previously reported only once.CASE PRESENTATION: We describe a 23-year-old patient with Miyoshi myopathy with a rigid spine and multiple contractures, a rare phenotypic variant. The disease first manifested when the patient was 13 years old, with fatigue of the gastrocnemius muscles and the development of pronounced contractures of the Achilles tendons, flexors of the fingers, and extensors of the toes, followed by the involvement of large joints and the spine. Magnetic resonance imaging revealed signs of connective tissue and fatty replacement of the posterior muscles of the thighs and lower legs. Edema was noted in the anterior and medial muscle groups of the thighs, lower legs, and the multifidus muscle of the back. Whole genome sequencing revealed previously described mutations in the DYSF gene in exon 39 (c.4282 C > T) and intron 51 (c.5785-824 C > T). An immunohistochemical analysis and Western blot showed the complete absence of dysferlin protein expression in the muscle fibers.CONCLUSIONS: This case expands the range of clinical and phenotypic correlations of dysferlinopathy and complements the diagnostic search for spine rigidity.

KW - Adolescent

KW - Adult

KW - Contracture/etiology

KW - Distal Myopathies

KW - Humans

KW - Membrane Proteins/genetics

KW - Muscle Proteins/genetics

KW - Muscular Atrophy

KW - Muscular Dystrophies, Limb-Girdle/complications

KW - Mutation

KW - Young Adult

KW - Limb-girdle muscle dystrophy R2

KW - DYSF

KW - Spine rigidity

KW - Contractures

KW - Dysferlinopathy

UR - https://www.mendeley.com/catalogue/44827d27-88a9-39f6-ad43-26692dacfbc8/

U2 - 10.1186/s12891-024-07270-y

DO - 10.1186/s12891-024-07270-y

M3 - Article

C2 - 38365661

VL - 25

JO - BMC Musculoskeletal Disorders

JF - BMC Musculoskeletal Disorders

SN - 1471-2474

IS - 1

M1 - 146

ER -