Asymptomatic and oligosymptomatic states of dysferlinopathy.

Dysferlinopathy is a phenotypically heterogeneous, inherited, progressive muscular dystrophy caused by mutations in the gene. Dysferlinopathy is marked by elevated serum creatine kinase (CK) and can in some cases manifest as hyperCKemia in asymptomatic or low-symptom states. Here, we describe the clinical signs and symptoms and laboratory and imaging results with quantitative MRI analysis of eight pediatric patients at asymptomatic and oligosymptomatic states of dysferlinopathy (aged 3-14 years).

[Physical medical rehabilitation of patients with dystrophinopathies: dynamics of the disease's course considering clinical anthropometric indicators].

Unlabelled: Dystrophinopathies - a group of hereditary X-linked neuromuscular diseases characterized by worsening fibrofatty degeneration of skeletal muscles, muscular weakness, low exercise tolerance, as well as orthopedic, cardiovascular and respiratory complications. Study of the effectiveness of physical medical rehabilitation in patients with neuromuscular diseases, evaluation of the influence of external and internal factors on functional capabilities and effectiveness of the conducted rehabilitation are highly relevant.

Objective: To evaluate the effectiveness of physical medical rehabilitation of patients with dystrophinopathies at the outpatient stages of the disease's course and the influence of anthropometric characteristics and functional status of patients' motor capabilities.

[The influence of hydrokinesitherapy on motor and cardiorespiratory functions in hereditary myopathy of childhood].

Objective: To evaluate the impact of regular hydrokinesotherapy sessions and indicators of cardiorespiratory functions on the motor abilities of patients with hereditary myopathy of childhood.

Material And Methods: The study included 63 patients with genetically confirmed hereditary myopathy. Group 1 included 32 patients with Duchenne muscular dystrophy (DMD) who were in the early ambulatory stage.

Safety and efficacy of viltolarsen in ambulatory and nonambulatory males with Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked recessive disease characterized by mutations in the dystrophin gene, causing motor and pulmonary function decline. Viltolarsen is indicated for patients with dystrophin gene mutations amenable to exon 53 skipping. Here, we report safety, motor function, and the first pulmonary function results from the open-label, phase II Galactic53 trial of viltolarsen (NCT04956289).

Efficacy and safety of hydrokinesitherapy in patients with dystrophinopathy.

Duchenne muscular dystrophy (DMD) is one of the most common forms of hereditary muscular dystrophies in childhood and is characterized by steady progression and early disability. It is known that physical therapy can slow down the rate of progression of the disease. According to global recommendations, pool exercises, along with stretching, are preferable for children with DMD, as these types of activities have a balanced effect on skeletal muscles and allow simultaneous breathing exercises.