Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça

Cardoso-Santos, Antonio; Azevedo, Ana Cecília; Fagondes, Simone Chaves; Burin, Maira Graeff; Giugliani, Roberto; Schwartz, Ida

doi:10.1590/s0021-75572008000200007

Cited by 12 publications

(7 citation statements)

References 11 publications

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“…Vision is often compromised by slowly increasing corneal clouding (Fig 2), but can also show rapid deterioration related to optic nerve damage from increased intracranial pressure or compression along the optic nerve [23]. Patients older than 10 years may progress to severe pulmonary obstruction and respiratory failure requiring tracheostomy [24], cardiac valve regurgitation or stenosis requiring valve replacement, severe joint disease [25] especially of the hips that may require replacement, claw-hand deformities (Fig 3) secondary to flexion contractures and carpal tunnel disease requiring median nerve release, severe spinal kyphosis, scoliosis (Fig 4), and cervical stenosis with spinal cord compression [26,21] requiring decompression and possible stabilization to prevent paralysis. These severe symptoms occurring together are typical of rapidly progressing disease and result in multiple hospital visits and surgical procedures accompanied by high-risk anesthesia [26].…”

Section: Clinical Descriptionmentioning

confidence: 99%

Mucopolysaccharidosis VI

Valayannopoulos¹,

Nicely

Harmatz³

et al. 2010

Orphanet J Rare Dis

272

296

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Mucopolysaccharidosis VI (MPS VI) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B leading to the accumulation of dermatan sulfate. Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (generally >100 μg/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades. A more slowly progressing form has been described as having later onset, mildly elevated glycosaminoglycans (generally <100 μg/mg creatinine), mild dysostosis multiplex, with death in the 4th or 5th decades. Other clinical findings may include cardiac valve disease, reduced pulmonary function, hepatosplenomegaly, sinusitis, otitis media, hearing loss, sleep apnea, corneal clouding, carpal tunnel disease, and inguinal or umbilical hernia. Although intellectual deficit is generally absent in MPS VI, central nervous system findings may include cervical cord compression caused by cervical spinal instability, meningeal thickening and/or bony stenosis, communicating hydrocephalus, optic nerve atrophy and blindness. The disorder is transmitted in an autosomal recessive manner and is caused by mutations in the ARSB gene, located in chromosome 5 (5q13-5q14). Over 130 ARSB mutations have been reported, causing absent or reduced arylsulfatase B (N-acetylgalactosamine 4-sulfatase) activity and interrupted dermatan sulfate and chondroitin sulfate degradation. Diagnosis generally requires evidence of clinical phenotype, arylsulfatase B enzyme activity <10% of the lower limit of normal in cultured fibroblasts or isolated leukocytes, and demonstration of a normal activity of a different sulfatase enzyme (to exclude multiple sulfatase deficiency). The finding of elevated urinary dermatan sulfate with the absence of heparan sulfate is supportive. In addition to multiple sulfatase deficiency, the differential diagnosis should also include other forms of MPS (MPS I, II IVA, VII), sialidosis and mucolipidosis. Before enzyme replacement therapy (ERT) with galsulfase (Naglazyme®), clinical management was limited to supportive care and hematopoietic stem cell transplantation. Galsulfase is now widely available and is a specific therapy providing improved endurance with an acceptable safety profile. Prognosis is variable depending on the age of onset, rate of disease progression, age at initiation of ERT and on the quality of the medical care provided.

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Section: Clinical Descriptionmentioning

confidence: 99%

Mucopolysaccharidosis VI

Valayannopoulos¹,

Nicely

Harmatz³

et al. 2010

Orphanet J Rare Dis

272

296

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“…However, when the animals had to counteract the force of gravity while hanging onto something, a strong and consistent impairment was found, which suggests that muscular endurance is affected in MPS VI rats. This impairment, in our opinion, is due to the impairment in the joints, ligaments and tendons all of which are affected in MPS VI subjects440.…”

Section: Discussionmentioning

confidence: 80%

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)

Saccone

Cotugno

Russo

et al. 2014

Sci Rep

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Maroteaux-Lamy disease, also known as mucopolysaccharidosis (MPS) VI, is an MPS disorder caused by mutations in the ARSB gene encoding for the lysosomal enzyme arysulfatase B (ARSB). Deficient ARSB activity leads to lysosomal accumulation of dermatan sulfate in a wide range of tissues and organs. There are various animal models of MPS VI that have been well characterized from a biochemical and morphological point of view. In this study, we report the sensory-motor characterization of MPS VI rats carrying homozygous null ARSB mutations. We show that adult MPS VI rats are specifically impaired in vertical activity and motor endurance. All together, these data are consistent with biochemical findings that show a major impairment in connective tissues, such as joints and bones. The behavioral abnormalities of MPS VI rats represent fundamental endpoints for studies aimed at testing the pre-clinical safety and efficacy of novel therapeutic approaches for MPS VI.

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“…Durante a avaliação, foi encontrada anteriorização e lateralização do CG nos participantes. Estes achados podem ser justificados visto que pacientes com MPS, desde os primeiros anos de vida apresentam comumente a restrição da amplitude de movimentação, principalmente dos joelhos, fazendo com que os pacientes assumam uma postura com joelhos flexionados, além disso, a hepatoesplenomegalia e o aumento dos órgãos internos, podem gerar abdômen protuso, contribuindo para a alteração do centro de gravidade, como a anteriorização (Cardoso- Santos et al 2008;Mizuno et al 2010;Valayannopoulos, Nicely & Harmatz, 2010).…”

Section: Discussionunclassified

Avaliação do centro de gravidade de crianças e adolescentes com Mucopolissacaridose tipo VI

Oliveira

Lima

Azevedo

et al. 2021

RSD

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Introdução: A mucopolissacaridose tipo VI (MPS VI) ou síndrome de Maroteaux-Lamy é uma doença metabólica rara, hereditária, conhecida como uma doença de depósito lisossomal onde os pacientes apresentam deformidades progressivas. Há uma necessidade de se entender como se comporta o centro de gravidade (CG) desses pacientes, como uma forma de prevenir quedas e direcionar a terapêutica. Objetivo: Avaliar a projeção do centro de gravidade de forma estática de crianças e adolescentes com MPS VI através do software de avaliação postural (SAPO®). Metodologia: Trata-se de um estudo descritivo, do tipo corte transversal, realizado em um centro de referência em doenças raras, com pacientes com MPS VI. A avaliação foi realizada de forma estática através de analise utilizando o SAPO®. Resultados: Foram avaliados 15 voluntários, 60% (9) do sexo masculino, com idade média de 7,80 ± 3,66. Foram encontradas assimetrias nos planos frontal e sagital, sendo uma maior assimetria no plano sagital: 34,68%±18,04 de assimetria, apresentando valor máximo de 73,7%. O CG de 93,9% dos avaliados estavam anteriorizados. Conclusão: Baseando-se nos relatórios emitidos pelo SAPO®, pode-se afirmar que existem alterações no CG das crianças e adolescentes com MPS VI.

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Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): avaliação da mobilidade articular e das forças de garra e de pinça

Cited by 12 publications

References 11 publications

Mucopolysaccharidosis VI

Mucopolysaccharidosis VI

Sensory-motor behavioral characterization of an animal model of Maroteaux-Lamy syndrome (or Mucopolysaccharidosis VI)

Avaliação do centro de gravidade de crianças e adolescentes com Mucopolissacaridose tipo VI

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