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Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC - Iran J Neurol (2014)

Bottom Line: The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling.Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral.A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University of Rome and San Camillo - Forlanin, Rome, Italy.

ABSTRACT
The term "Ehlers-Danlos syndrome" (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

No MeSH data available.


Related in: MedlinePlus

Summary of the Beighton and Bulbena scores for assessing joint hypermobility. The picture of the Beighton score is freely available at: http://www.hypermobility.org/beighton.php
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Figure 3: Summary of the Beighton and Bulbena scores for assessing joint hypermobility. The picture of the Beighton score is freely available at: http://www.hypermobility.org/beighton.php

Mentions: On a practical point of view, the group of EDS types is large with a wide spectrum of manifestations and possible complications. Nevertheless, in this paper reviewing neurological features in EDS, the variability at presentation may be narrowed to a discrete list (Table 4).120Figure 3120 illustrates the procedures for assessing generalized JHM by the Beighton score121 which is currently included in both Villefranche and Brighton criteria, as well as the alternative Bulbena score, which has proved to be equally efficient in discriminating hypermobile and non-hypermobile subjects.122 Both sets have limits and are not ideal in all situations, but may be considered useful first-line screening methods. A positive scoring as illustrated in figure 3 should prompt the clinical neurologist to refer the patient to an expert in the field for diagnosis confirmation and appropriate multidisciplinary management.


Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Castori M, Voermans NC - Iran J Neurol (2014)

Summary of the Beighton and Bulbena scores for assessing joint hypermobility. The picture of the Beighton score is freely available at: http://www.hypermobility.org/beighton.php
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4300794&req=5

Figure 3: Summary of the Beighton and Bulbena scores for assessing joint hypermobility. The picture of the Beighton score is freely available at: http://www.hypermobility.org/beighton.php
Mentions: On a practical point of view, the group of EDS types is large with a wide spectrum of manifestations and possible complications. Nevertheless, in this paper reviewing neurological features in EDS, the variability at presentation may be narrowed to a discrete list (Table 4).120Figure 3120 illustrates the procedures for assessing generalized JHM by the Beighton score121 which is currently included in both Villefranche and Brighton criteria, as well as the alternative Bulbena score, which has proved to be equally efficient in discriminating hypermobile and non-hypermobile subjects.122 Both sets have limits and are not ideal in all situations, but may be considered useful first-line screening methods. A positive scoring as illustrated in figure 3 should prompt the clinical neurologist to refer the patient to an expert in the field for diagnosis confirmation and appropriate multidisciplinary management.

Bottom Line: The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling.Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral.A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

View Article: PubMed Central - PubMed

Affiliation: Department of Medical Genetics, San Camillo-Forlanini Hospital, Sapienza University of Rome and San Camillo - Forlanin, Rome, Italy.

ABSTRACT
The term "Ehlers-Danlos syndrome" (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient's recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders.

No MeSH data available.


Related in: MedlinePlus