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Neurological Manifestations of Achondroplasia

  • Neurology of Systemic Diseases (J Biller, Section Editor)
  • Published:
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Abstract

Purpose of review

This review is to delineate the neurological complications seen in patients with achondroplasia.

Recent findings

As the understanding of the genetics of this disorder has advanced, the possibility of targets for intervention which might modify the development and management of the neurological complications of this disease may be identified.

Summary

Achondroplasia is a hereditary short-limbed dwarfism which has been known for millennia. The genetic defect is a gain of function sequence variation in the fibroblast growth factor receptor 3 (FGFR3). This gene normally regulates (inhibits) bone growth thus the gain of function results in abnormal or excessive inhibition of growth. The resulting bone is subject to distortion and the result is that bone impinges on nervous tissue, most commonly at the foramen magnum, spinal canal, and nerve root outlet foramen. Awareness of the range of these complications will, hopefully, allow early and more effective intervention so as to ameliorate the nature and severity of the long-term effects of the neurological complications in patients with achondroplasia.

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Authors and Affiliations

  1. Neurology and Pediatrics, Mayo Clinic School of Medicine, Rochester, USA

    John B. Bodensteiner

  2. Child and Adolescent Neurology, Mayo Clinic, Rochester, MN, USA

    John B. Bodensteiner

  3. Scottsdale, USA

    John B. Bodensteiner

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Correspondence to John B. Bodensteiner.

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John B. Bodensteiner has received paid travel accommodations from the ABPN.

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Bodensteiner, J.B. Neurological Manifestations of Achondroplasia. Curr Neurol Neurosci Rep 19, 105 (2019). https://doi.org/10.1007/s11910-019-1008-x

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