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Spinal muscular atrophy (SMA) is an autosomal recessive disorder that affects the motoneurons of the spinal anterior corn, resulting in hypotonia and muscle weakness. The knowledge about its molecular mechanism has led to clinical tests with drugs that increase survival motor neuron (SMN) protein level. The valproic acid (VA) that acts as a histone deacetylase inhibitor activates the SMN2 gene increasing the protein level. Methods: Twenty-two patients with type II and III SMA, aged between 2 and 18 years old, were treated with VA and were evaluated five times along a period of one year using the Manual Muscle Test (Medical Research Council scale-MRC), the Hammersmith Motor Ability Score, and the Barthel Index. The first evaluation was coincident with the introduction of VA. Results: After 12 months of therapy, the patients did not gain muscle strength but their motor ability has improved. Children younger than 6 years of age had a higher pronounced gain in motor ability. Conclusion: treatment of SMA patients with VA is one alternative to alleviate the progression of the disease.
Observational Model: Cohort, Time Perspective: Prospective
Spinal Muscular Atrophy
Section of Neuromuscular Disorders and Service of Child Neurology, Clinics Hospital of the School of Medicine at São Paulo Univ
University of Sao Paulo General Hospital
Published on BioPortfolio: 2014-08-27T03:17:13-0400
The primary objective of this study is to demonstrate a pharmacodynamic effect of CK-2127107 on measures of skeletal muscle function or fatigability in patients with Spinal Muscular Atroph...
IO-SMA-Registry is a prospective, longitudinal and observational study which objective is to collect prospectively information on longevity, psychomotor development and respiratory functio...
The purpose of this study is to evaluate the safety of olesoxime in participants with spinal muscular atrophy, focusing on the nature, frequency, and severity of adverse events, as well as...
Spinal Muscular Atrophy (SMA) is neurodegenerative disease of anterior horn cells of spinal cord and represents the second more frequent pathology in childhood. According to the age of ...
Spinal muscular atrophy (SMA) is the leading genetic cause of death of infants. Strong preclinical evidence suggests that effective therapy must be delivered as early as possible to preven...
Spinal muscular atrophies are rare genetic disorders most often caused by homozygous deletion mutations in SMN1 that lead to progressive neurodegeneration of anterior horn cells. Ventral spinal root a...
Many patients with spinal muscular atrophy (SMA) who might benefit from intrathecal antisense oligonucleotide (nusinersen) therapy have scoliosis or spinal fusion that precludes safe drug delivery. To...
To report our experience delivering intrathecal nusinersen through cervical puncture in patients with spinal muscular atrophy (SMA) with no lumbar access.
To quantitatively describe passive lower extremity range of motion in participants with spinal muscular atrophy (SMA) types 2 and 3, and to establish preliminary thresholds to identify individuals at ...
Objective of this study is the comprehensive characterisation of motor unit (MU) loss in type III and IV Spinal Muscular Atrophy (SMA) using motor unit number index (MUNIX), and evaluation of compensa...
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)
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