Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

Aslam, Riffat; Bommel, A.C.M. van; Hendriksz, Christian J.; Jester, Andrea

doi:10.1007/8904_2012_179

Cited by 20 publications

(33 citation statements)

References 12 publications

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“…May this study enable new studies and protocols for evaluation and motor rehabilitation in this population, providing information for the improvement of clinical care for these patients, drawing the attention of the scientific community to the importance of this issue. 16 the mean radial deviation for active ROM was 6º and the mean ulnar deviation for active ROM was 30º, which reinforce the presence of hyper joint mobility in patients with MPS type VI, contrary to the present study, in which patients presented a general mean radial deviation for ROM of 17.46º and a mean ulnar deviation for ROM of 13.46º, probably due to the joint stiffness presented by those patients.…”

Section: Resultscontrasting

confidence: 63%

“…This runs contrary to the study by Aslam et al on MPS type VI, in which most of the individuals studied 7 (10) reported not feeling pain at any time. 16 Of the changes in ROM, shoulder flexion 6 is the one most impaired, having no correlation with age and being a clinical sign of a possible MPS type VI diagnosis. 4 The present study observed that in shoulder flexion, individuals obtained the mean of what was predicted for the joint, however, the same patients presented range limitations in all the joints, especially seen in elbow flexion, in which the means were below what was predicted.…”

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confidence: 97%

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Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

Medeiros¹,

Silva²,

Queiroz³

et al. 2015

Acta Fisiátrica

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Objective: The present study aims to evaluate the grip strength and range of motion of the upper limbs of patients with Mucopolysaccharidosis VI in order to observe how these factors can affect and correlate with the activities of daily living. Methods: The sample consisted of 13 patients: 8 males and 5 females, with a mean age of 17.76 years, mean weight of 31.30Kg, and a mean height of 1.17m, who agreed to participate and who met the inclusion criteria. (IMIP). Range of motion (ROM) measurements of their upper limbs and manual grip strength were collected, and the subjects answered a structured questionnaire. Results: In this study the flexion of the shoulder joint that had the greater impairment mostly did not follow this pattern, since the average ROM for the left arm was 90.38 and 93.38 for the right. The ROM found to be the farthest below the predicted average in the study was for wrist extension in both the left and right limbs. In grip strength assessment, only one individual measured above the predicted average, 9 (69.21%) showed a degree of strength between 0 and 2 pounds (lb) in the right hand and 8 (61.52%) in the left. Conclusion: This study hopes to serve as a means of monitoring the evolution of MPS VI , which can support new studies, evaluation protocols, and motor rehabilitation. Keywords: Mucopolysaccharidosis VI, Upper Extremity, Hand Strength, Physical Therapy Modalities Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

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Section: Resultscontrasting

confidence: 63%

mentioning

confidence: 97%

Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

Medeiros¹,

Silva²,

Queiroz³

et al. 2015

Acta Fisiátrica

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“…GALNS deficiency leads to the accumulation of the GAGs keratan sulfate (KS) and chondroitin-6-sulfate (C6S) in lysosomes and results in prominent skeletal and connective tissue abnormalities. In addition to skeletal and connective tissue abnormalities, patients also experience joint hypermobility (Aslam et al, 2013), muscle weakness, pulmonary and cardiac manifestations of the disease, all of which can result in reduced endurance and impact both quality of life and mortality. Compared with patients with other MPS disorders, those with Morquio A often show joint hypermobility in contrast to joint stiffness.…”

Section: Introductionmentioning

confidence: 99%

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Morrone

Tylee²,

AlSayed

et al. 2014

Molecular Genetics and Metabolism

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Morquio A (Mucopolysaccharidosis IVA; MPS IVA) is an autosomal recessive lysosomal storage disorder caused by partial or total deficiency of the enzyme galactosamine-6-sulfate sulfatase (GALNS; also known as N-acetylgalactosamine-6-sulfate sulfatase) encoded by the GALNS gene. Patients who inherit two mutated GALNS gene alleles produce protein with decreased ability to degrade the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate, thereby causing GAG accumulation within lysosomes and consequently pleiotropic disease. GALNS mutations occur throughout the gene and many mutations are identified only in single patients or families, causing difficulties both in mutation detection and interpretation. In this study, molecular analysis of 163 patients with Morquio A identified 99 unique mutations in the GALNS gene believed to negatively impact GALNS protein function, of which 39 are previously unpublished, together with 26 single-nucleotide polymorphisms. Recommendations for the molecular testing of patients, clear reporting of sequence findings, and interpretation of sequencing data are provided.

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“…It is important to be aware that adenoidectomy can be challenging due to difficult airway access in patients with limited neck extension, macroglossia and/or reduced mouth opening, and the risk of atlanto-axial subluxation [30]. [6,7,[34][35][36]. Skeletal and joint disease is particularly common in patients with MPS I, IV and VI, but also occurs in the other MPS disorders [35].…”

Section: Smell and Tastementioning

confidence: 99%

“…The various clinical manifestations of MPS may considerably affect each of the five senses: hearing, vision, smell, taste, and touch [3][4][5][6][7]. However, little is known on how patients perceive impairments in the senses and how these affect activities of daily living (ADL) and quality of life (QoL).…”

Section: Introductionmentioning

confidence: 99%

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

Giugliani

Harmatz

Lin

et al. 2020

Orphanet J Rare Dis

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Background: The mucopolysaccharidoses (MPSs) are lysosomal storage disorders associated with progressive multiorgan and skeletal abnormalities. Clinical manifestations can affect each of the five senses: hearing, vision, smell, taste, and touch. Main body of the abstract: On 24-26 May 2018, 46 specialists with expertise in managing symptoms of MPS and experts specialized in evaluating and managing impairments in each one of the five senses gathered in Lisbon, Portugal at the "MPS & the five senses" meeting to discuss how loss of one or multiple senses can affect activities of daily living (ADL) and quality of life (QoL) in MPS patients and best practices in evaluating and managing the loss of senses in these individuals. The meeting confirmed that MPS can affect the senses considerably, but how these impairments affect ADL and overall QoL from a patient's perspective remains unclear. A better insight may be achieved by prospectively collecting patient-reported outcome (PRO) data internationally in a standardized way, using a standard battery of tools. To identify relevant PRO tools, a systematic literature review and a selection of existing published questionnaires, focused on adults with no intellectual delay, were performed after the meeting. The search strategy identified 33 PRO tools for hearing, 30 for speech, 125 for vision, 49 for touch (including pain and upper limb function), and 15 for smell/taste. A further selection was made based on several criteria, including applicability/relevance for MPS, applicability in different countries (languages)/cultures, availability in English, ease of use, validation, and normative data, resulting in a final set of 11 tools. In addition to these sense-specific PRO tools, a general QoL tool, the EuroQol (EQ)-5D-5 L, was selected to assess overall QoL and reveal coping behaviors. Short conclusion: MPS can affect each of the five senses, but current knowledge on the impact of sense impairments on QoL/ADL in MPS patients remains limited. Collection of data in a standardized fashion using sensespecific patient-reported outcome tools and a general QoL tool may fill the current knowledge gap.

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Subjective and Objective Assessment of Hand Function in Mucopolysaccharidosis IVa Patients

Cited by 20 publications

References 12 publications

Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

Evaluation of grip strength and range of motion of the upper limbs in patients with mucopolysaccharidosis VI

Molecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutations

Assessing the impact of the five senses on quality of life in mucopolysaccharidoses

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