Bent spine syndrome as the initial symptom of late‐onset Pompe disease

Taisne, Nicolas; Desnuelle, Claude; Morales, Raúl Juntas; Monasterio, Xavier Ferrer; Sacconi, Sabrina; Duval, Fanny; Solé, Guilhem; Flipo, R.M.; Lacour, Arnaud; Vermersch, Patrick; Cardon, T

doi:10.1002/mus.25478

Cited by 11 publications

(4 citation statements)

References 20 publications

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“…However, semi-automated quantification of fatty muscular degeneration demonstrated, in particular, high inter-observer agreement (for a relatively large patient cohort), correlation with clinical data, ease of use, and a retrospective application to gauge disease progression (superior to Mercuri scoring). Another limitation is that correlates with clinical data were assessed using imaging data of lumbar muscles only, but these muscles–though less frequently assessed in the literature–are of high clinical relevance for LOPD patients, and their degeneration might lead to the initial clinical symptoms in these patients [ 40 ]. In addition, as the proposed methods could be applied to any specific muscle, the incorporation of upper leg muscle imaging might be of use in future studies.…”

Section: Discussionmentioning

confidence: 99%

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

et al. 2018

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ObjectiveThe objective of this study was to evaluate a quantitative method based on conventional T1-weighted magnetic resonance (MR) imaging to assess fatty muscular degeneration in patients with late-onset Pompe disease and to compare it with semi-quantitative visual evaluation (the Mercuri score). In addition, a long-term retrospective data analysis was performed to evaluate treatment response to enzyme replacement therapy with alglucosidase alfa.MethodsMR images of the lumbar spine were acquired in 41 patients diagnosed with late-onset Pompe disease from 2006 through 2015. Two independent readers retrospectively evaluated fatty degeneration of the psoas and paraspinal muscles by applying the Mercuri score. Quantitative semi-automated muscle and fat tissue separation was performed, and inter-observer agreement and correlations with clinical parameters were assessed. Follow-up examinations were performed in 13 patients treated with alglucosidase alfa after a median of 39 months; in 7/13 patients, an additional follow-up examination was completed after a median of 63 months.ResultsInter-observer agreement was high. Measurements derived from the quantitative method correlated well with Medical Research Council scores of muscle strength, with moderate correlations found for the 6-minute walk test, the 4-step stair climb test, and spirometry in the supine position. A significant increase in the MR-derived fat fraction of the psoas muscle was found between baseline and follow-up 1 (P = 0.016), as was a significant decrease in the performance on the 6-minute walk test (P = 0.006) and 4-step stair climb test (P = 0.034), as well as plasma creatine kinase (P = 0.016). No statistically significant difference in clinical or MR-derived parameters was found between follow-up 1 and follow-up 2.ConclusionsQuantification of fatty muscle degeneration using the semi-automated method can provide a more detailed overview of disease progression than semi-quantitative Mercuri scoring. MR-derived data correlated with clinical symptoms and patient exercise capacity. After an initial worsening, the fat fraction of the psoas muscle and performance on the 6-minute walk test stayed constant during long-term follow-up under enzyme replacement therapy.

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Section: Discussionmentioning

confidence: 99%

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

et al. 2018

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“…In this case, the erector spinae muscles are often massively infiltrated by fat and connective tissue. Other abnormal conditions related to the axial skeleton are represented by scoliosis, kyphosis and lumbar lordosis (29).…”

Section: Musculoskeletal and Bone Involvementmentioning

confidence: 99%

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

2019

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Pompe disease is classified by age of onset, organ involvement, severity, and rate of progression in two main forms: the first one, infantile onset Pompe disease (IOPD), presents before the age of 12 months with generalized muscle weakness, hypotonia, respiratory distress, and hypertrophic cardiomyopathy as main clinical features. The second form, late onset Pompe disease (LOPD), is characterized by an onset at the age of 12 months to adulthood, hyperCKemia, and limb-girdle and axial muscle weakness, often complicated by respiratory muscles degeneration. In the last 10-15 years, an increasing interest in Pompe disease has led to multiple studies in an effort to clarify the emerging clinical aspects, to find out the best diagnostic tools to identify the disease as early as possible, and to offer new therapeutic options apart from enzyme replacement therapy (ERT). Since 2006, ERT-the first treatment for Pompe disease-has been universally accepted in the majority of countries all over the world. Although for years Pompe disease has been primarily considered a muscle disorder, nowadays it is clear that the involvement of several other organs has changed the cultural approach to this entity which is now viewed as a multisystem disorder. The emerging clinical aspects have greatly expanded the spectrum of the disease manifestations. In fact, central, peripheral, and autonomous nervous systems are often involved; vascular malformations and heart involvement are frequently observed; musculoskeletal and bone changes as well as oro-gastrointestinal and urinary tract alterations have been better defined. A great deal of effort has been made to clarify the clinical aspects of Pompe disease, to raise awareness of the LOPD patients' problems and to improve their quality of life.

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“…La incidencia de anomalías cerebrovasculares en pacientes con LOPD es mayor en comparación con la población general (31,32,32). Los informes de casos de afectación cerebrovascular juvenil son raros (34).…”

Section: Afectación Cerebrovascularunclassified

Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas

Millán-Pérez,

Chacón-Valencia,

Bolaños-Almeida

et al. 2023

Acta Neurol Colomb

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Introducción: la enfermedad de Pompe o glucogenosis tipo II pertenece al grupo de las miopatías metabólicas y es producida por la deficiencia parcial o total de la enzima alfa glucosidasa ácida. La ausencia/déficit de esta enzima genera un almacenamiento de glucógeno en el interior de los lisosomas en diversos tejidos, incluidos el músculo esquelético, el miocardio y las células del músculo liso. Se trata de una enfermedad multisistémica que puede tener un inicio temprano o tardío de los síntomas. Contenidos: en este artículo se describirán los aspectos históricos de la enfermedad, su fisiopatología y sus manifestaciones clínicas, con el énfasis puesto en su inicio temprano o tardío. Conclusiones: es necesario reconocer la enfermedad de Pompe debido a que esta patología es susceptible de tratamiento.

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Bent spine syndrome as the initial symptom of late‐onset Pompe disease

Abstract: Clinicians should be aware of this atypical presentation of LOPD to enable earlier diagnosis and treatment. Muscle Nerve 56: 167-170, 2017.

Cited by 11 publications

References 20 publications

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy

Multisystem late onset Pompe disease (LOPD): an update on clinical aspects

Enfermedad de Pompe: historia, epidemiología, fisiopatología y manifestaciones clínicas

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