Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments

Osipova, L. A.; Kuzenkova, L.M.; Намазова-Баранова, Л. С.; Геворкян, А. К.; Podkletnova, Tatyana V.; Вашакмадзе, Н. Д.

doi:10.15690/vsp.v14i5.1436

Cited by 7 publications

(4 citation statements)

References 51 publications

(139 reference statements)

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“…При «мягких» фенотипах проявления со стороны кисти долгое время не замечаются из-за высокой компенсации. С другой стороны, при тяжелых (нейронопатических) фе-нотипах проявления со стороны кисти на первый взгляд не кажутся столь важными [10].…”

Section: результатыunclassified

Upper Limb Pathology in Children with Mucopolysaccharidoses

Kenis

Melchenko

Маркова

et al. 2021

Traumatology and Orthopedics of Russia

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Background. Despite the success in the treatment of children with mucopolysaccharidoses (MPS) as a result of the widespread of enzyme replacement therapy and hematopoietic stem cells transplantation, orthopedic manifestations continue to be a significant problem, while the pathology of the upper limbs in children with MPS is not sufficiently represented in the literature. The aim of this studywas to analyze orthopedic and neurological manifestations in the upper extremities of children with mucopolysaccharidosis based on a sequential case series. Materials and Methods. We carried out a comprehensive analysis of clinical and radiological involvement of the upper extremities in 49 patients with MPS. Results. The most common complaints reated to the upper extremities were difficulties in the daily activities (dressing, self-care, playing), impairment of the fine motor skills, and muscle weakness. The most frequent clinical manifestations related to the upper extremities were limited active shoulder abduction, impaired hand grip, flexion contractures of the elbow joint, ulnar deviation of the hand. All patients with MPS types I, II, and VI had limited active and passive extension and flexion of the metacarpophalangeal and interphalangeal joints. In patients with MPS IV, hypermobility of the hand joints prevailed. We noticed minimal presence of typical clinical manifestations related to compression of the median nerve secific for carpal tunnel syndrome. The majority of patients showed a decrease in tendon and periosteal reflexes. The most pronounced decrease in muscle strength was observed in to extensors (elbow, fingers) and shoulder abductors, which may contribute to the predominant formation of a flexion pattern of contractures. On radiographs of the hand, the “melting sugar” symptom and shortening of the metacarpal bones were observed in most patients. Conclusion.Clinical and radiological manifestations related to the upper extremities take place in all types of the mPS, and lead to functional disorders that complicate daily life and self-care. Upper limb pathology in children with MPS requires earlier detection and more active treatment after comprehensive risk assessment.

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Section: результатыunclassified

Upper Limb Pathology in Children with Mucopolysaccharidoses

Kenis

Melchenko

Маркова

et al. 2021

Traumatology and Orthopedics of Russia

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“…Основная тенденция в разработке подходов к лечению МПС -поиск препаратов, которые бы не только смягчали основные экстраневральные проявления заболевания, но и позволяли бы корректировать тяжелые неврологические нарушения [6]. По мнению многих исследователей, для достижения оптимального эффекта лечение должно начинаться на досимптомной стадии болезни, до развития необратимого повреждения центральной нервной системы [7].…”

Section: лечение мукополисахаридозовunclassified

Current Approaches to the Treatment of Hunter Syndrome

et al. 2018

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Mucopolysaccharidosis type II (MPS II; Hunter syndrome) is an X-linked hereditary disorder associated with a deficiency of iduronate2-sulfatase (IDS). IDS deficiency provokes the accumulation of dermatan sulfate and heparan sulfate in different tissues. Clinical manifestations of MPS II are heterogeneous and involve different organs. Two phenotypes are distinguished: attenuated or severe; classification is based on central nervous system impairment signs. The review provides data on the current treatments opportunities for Hunter syndrome and perspectives for development of new therapeutic approaches. Current treatment includes intravenous enzyme replacement therapy (ERT), hematopoietic stem cell transplantation, and symptomatic treatment. Intravenous enzyme replacement therapy does not promote the enzyme to penetrate the blood-brain barrier which leads to the treatment failure for neurological signs and symptoms; hematopoietic stem cell transplantation has high risk of post-transplantation complications but can improve some neurological problems. Intrathecal ERT, substrate reduction, pharmacological chaperones, and gene therapy are currently under investigation as therapies for severe form of MPS II. Development of new approaches to treatment of Hunter syndrome and other hereditary diseases is extremely vital.

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“…Кроме того, список скринируемых нозологий важно дополнить болезнью Гоше и болезнью Помпе, при которых применяется патогенетическая терапия с помощью препаратов, зарегистрированных на территории Российской Федерации. Все эти состояния необходимо выявлять в неонатальном периоде, на доклинической стадии, что позволит в подавляющем большинстве случаев не допустить тяжелую инвалидизацию больных детей, сократив количество госпитализаций и их продолжительность вплоть до перевода детей на амбулаторное лечение [17][18][19].…”

Section: некоторые факторы риска формирования инвалидности у детейunclassified

Problems of Children's Disability in Modern Russia

et al. 2017

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Creation of system of early prophylaxis of children disability and support of the families bringing up disabled children and children with limited opportunities are among the main priorities of the Russian Federation state social policy. There are a number of problems requiring immediate solutions. Dynamics of children’s disability in our country is characterized by process stagnation. The age and gender structure of children’s disability practically doesn’t change. The analysis of its nosological structure shows that alienations and disorders of behavior, illness of a nervous system and congenital anomalies of development steadily occupy more than 60% among the illnesses which caused disability of children of all age groups. There was a decrease in the prevalence of total disability in most classes of diseases, such as injuries, diseases of the genitourinary system, respiratory system, musculoskeletal system, digestive system and growth of disability caused by neoplasms and diseases of the endocrine system. The underestimation of children’s disability bound to various reasons is supposed: social motivation of a family, complexity of legal veneering, strict requirements of service of medico-social examination, insufficient medical experts awareness on criteria of disability. Among disability formations risk factors the most discussed are the achievements of perinatology leading to improvement of nursing of prematurely born and small newborns, and wide uses of auxiliary genesial technologies. An important part of all preventive measures aimed at reducing the genetic load of population is prenatal and preimplantation diagnosis. It seems appropriate to extend the screening to congenital and hereditary metabolic diseases in neonatal period, including the most common nosological forms of infrequent illnesses. In solving problems of childhood disability prevention a priority should be given to development of services of family planning; improving antenatal and perinatal care; preventive work with healthy but having deviations in development children; development of medical genetic services; implementation of programs of different types of pathology screening.

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Neuronopathic Types of Mucopolysaccharidoses: Pathogenesis and Emerging Treatments

Cited by 7 publications

References 51 publications

Upper Limb Pathology in Children with Mucopolysaccharidoses

Upper Limb Pathology in Children with Mucopolysaccharidoses

Current Approaches to the Treatment of Hunter Syndrome

Problems of Children's Disability in Modern Russia

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