Rigid spine syndrome revealing late-onset Pompe disease

Laforêt, Pascal; Doppler, Valérie; Caillaud, Catherine; Laloui, K.; Claeys, Kristl G.; Richard, P.; Ferreiro, Ana; Eymard, B.

doi:10.1016/j.nmd.2009.11.006

Cited by 29 publications

(21 citation statements)

References 11 publications

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“…Limited evidence is available to guide the management of scoliosis and spinal deformity in late‐onset Pompe disease. As a consequence of proximal limb and truncal weakness, and paraspinal muscle atrophy, some patients with late‐onset Pompe disease adopt a compensatory lumbar lordosis while standing, whereas others may experience rigid spine syndrome 54, 55. Scoliosis progression can be monitored with serial radiography once transition to wheelchair use has occurred.…”

Section: Resultsmentioning

confidence: 99%

Consensus treatment recommendations for late‐onset Pompe disease

et al. 2011

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Introduction Pompe disease is a rare, autosomal recessive disorder caused by deficiency of the glycogen-degrading lysosomal enzyme acid alpha-glucosidase. Late-onset Pompe disease is a multisystem condition, with a heterogeneous clinical presentation that mimics other neuromuscular disorders. Methods Objective is to propose consensus-based treatment and management recommendations for late-onset Pompe disease. Methods A systematic review of the literature by a panel of specialists with expertise in Pompe disease was undertaken. Conclusions A multidisciplinary team should be involved to properly treat the pulmonary, neuromuscular, orthopedic, and gastrointestinal elements of late-onset Pompe disease. Presymptomatic patients with subtle objective signs of Pompe disease (and patients symptomatic at diagnosis) should begin treatment with enzyme replacement therapy (ERT) immediately; presymptomatic patients without symptoms or signs should be observed without use of ERT. After 1 year of ERT, patients’ condition should be reevaluated to determine whether ERT should be continued.

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Section: Resultsmentioning

confidence: 99%

Consensus treatment recommendations for late‐onset Pompe disease

et al. 2011

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“…In 2010, Laforêt et al . reported a Pompe patient with rigid spine syndrome, which is typically caused by congenital myopathy or Emery–Dreifuss muscular dystrophy.…”

Section: Discussionmentioning

confidence: 99%

“…In LOPD, symptoms related to the axial skeleton include lordosis, kyphosis, or scoliosis. Rigid spine syndrome has also been reported . This symptom affects approximately 20% of patients and is more prevalent in the adult form than in the infantile form .…”

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confidence: 99%

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

et al. 2016

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“…The rigid spine phenomenon, as presented in one of our patients, should be kept in mind as a possible symptom in the phenotypic presentation of PD. Two other cases of rigid spine in PD were recently described in the literature with the conclusion that the rigidity of the spine accompanies contractures of limb joints [22–24]. …”

Section: Discussionmentioning

confidence: 99%

Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

Haaker

Forst

et al. 2014

The Scientific World Journal

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Introduction. Pompe disease (PD), a lysosomal storage disease as well as a neuromuscular disorder, is a rare disease marked by progressive muscle weakness. Enzyme replacement therapy (ERT) in recent years allowed longer survival but brought new problems to the treatment of PD with increasing affection of the musculoskeletal system, particularly with a significantly higher prevalence of scoliosis. The present paper deals with the orthopedic problems in patients with PD and is the first to describe surgical treatment of scoliosis in PD patients. Patients and Methods. The orthopedic problems and treatment of eight patients with PD from orthopedic consultation for neuromuscular disorders are retrospectively presented. We analyzed the problems of scoliosis, hip dysplasia, feet deformities, and contractures and presented the orthopedic treatment options. Results. Six of our eight PD patients had scoliosis and two young patients were treated by operative spine stabilization with benefits for posture and sitting ability. Hip joint surgery, operative contracture release, and feet deformity correction were performed with benefits for independent activity. Conclusion. Orthopedic management gains importance due to extended survival and musculoskeletal involvement under ERT. Surgical treatment is indicated in distinct cases. Further investigation is required to evidence the effect of surgical spine stabilization in PD.

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Rigid spine syndrome revealing late-onset Pompe disease

Cited by 29 publications

References 11 publications

Consensus treatment recommendations for late‐onset Pompe disease

Consensus treatment recommendations for late‐onset Pompe disease

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

Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

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