Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2014 Oct 6;13(4):190-208.

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

Marco Castori  1 , Nicol C Voermans  2
Affiliations
Review

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

Marco Castori et al. Iran J Neurol. .

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.

Keywords: Brain; Developmental Delay; Ehlers-Danlos Syndrome; Fatigue; Headache; Neuromuscular.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Examples of cutaneous and articular manifestations of Ehlers-Danlos syndrome (EDS). Papyraceous scars at knees in a adult man (A) and woman (B) with classic EDS. Various degrees of skin hyperextensibility (C, D). Extensive easy bruising due to capillary fragility in a adult (E) and child (F). Joint hypermobility at fingers (G). Genu recurvatum (H)
Figure 2
Figure 2
Periventricular heterotopias in a 37-year-old woman with features of classic Ehlers-Danlos syndrome
Figure 3
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
See this image and copyright information in PMC

References

    1. Ehlers E, Cutis L. Neigung zu Haemorhagien in der Haut, Lockerung mehrerer Artikulationen. Dermatologische Zeitschrift. 1901;8:173–4.
    1. Danlos HA. Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (xanthome juvenile pseudo-diabétique de MM, Halloepau et Macé de Lépinay) Bulletin de la Société Française de Dermatologie et de Syphiligraphie. 1908;39:1252–56.
    1. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK) Am J Med Genet. 1998;77(1):31–7. - PubMed
    1. Mayer K, Kennerknecht I, Steinmann B. Clinical utility gene card for: Ehlers-Danlos syndrome types I-VII and variants - update 2012. Eur J Hum Genet. 2013;21(1) - PMC - PubMed
    1. Grahame R, Bird HA, Child A. The revised (Brighton 1998) criteria for the diagnosis of benign joint hypermobility syndrome (BJHS) J Rheumatol. 2000;27(7):1777–9. - PubMed

LinkOut - more resources