Treatment of SMA in Tashkent
Comprehensive rehabilitation for children with spinal muscular atrophy. The program aims to maintain and develop motor functions, prevent contractures, strengthen respiratory muscles, and improve the child's quality of life.
What is SMA?
Spinal muscular atrophy (SMA) is a hereditary neuromuscular disease caused by a mutation in the SMN1 gene. In SMA, the body's muscles gradually weaken, including the respiratory muscles. Modern gene therapy has significantly changed the prognosis, but rehabilitation remains a key component of comprehensive management. Our program helps children maintain existing functions and develop new skills.
Causes of SMA
SMA is caused by a mutation or deletion of the SMN1 gene on chromosome 5. The disease is inherited in an autosomal recessive pattern — both parents are carriers. The SMN1 gene is responsible for producing a protein essential for the survival of motor neurons in the spinal cord.
SMA Manifestations
Progressive muscle weakness, decreased muscle tone (hypotonia), difficulty holding the head up, sitting, walking, weakening of respiratory muscles, scoliosis, joint contractures. Severity depends on the SMA type (I–IV).
Diagnostics
Genetic blood test (SMN1 gene deletion analysis), electromyography (EMG), motor function assessment using CHOP INTEND and HFMSE scales, spirometry for respiratory function evaluation, neurologist and geneticist consultations.
Prognosis
The prognosis has significantly improved thanks to gene therapy (Zolgensma, Spinraza, Risdiplam). With regular rehabilitation, children maintain and acquire motor skills, and secondary complications are prevented. Early initiation of therapy and rehabilitation is critically important.
How we treat
Diagnostics
Comprehensive examination and patient assessment by an international team of specialists
Treatment plan
Development of an individual rehabilitation program considering diagnosis specifics
Therapy
Intensive course of procedures: physical therapy, massage, physiotherapy, acupuncture and other methods
Results
Progress evaluation, home recommendations and maintenance therapy plan
Procedures for treating SMA
Questions about treatment of SMA
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