serval:BIB_B81633D6A27B
Current Care and Investigational Therapies in Achondroplasia.
10.1007/s11914-017-0347-2
000401631300001
28224446
Unger
S.
author
Bonafé
L.
author
Gouze
E.
author
article
review
2017-04
Current osteoporosis reports
1544-2241
1544-1873
journal
15
2
53-60
The goal of this review is to evaluate the management options for achondroplasia, the most common non-lethal skeletal dysplasia. This disease is characterized by short stature and a variety of complications, some of which can be quite severe.
Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications. Achondroplasia is the most common non-lethal skeletal dysplasia. It is characterized by short stature and a variety of complications, some of which can be quite severe. Despite several attempts to standardize care, there is still no widely accepted consensus. This is in part due to absence of concrete data on the incidence of sudden unexplained death in infants with achondroplasia and the best investigation for ascertaining which individuals could benefit from foramen magnum decompression surgery. In this review, we identify the different options of care and management for the various orthopedic, neurologic, and respiratory complications. In parallel, several innovative or drug repositioning therapies are being investigated that would restore bone growth but may also prevent complications.
Achondroplasia/complications
Achondroplasia/therapy
Bone Lengthening
Brain Stem
Decompression, Surgical
Disease Management
Foramen Magnum/abnormalities
Humans
Hydrocephalus/etiology
Hydrocephalus/therapy
Joint Instability/etiology
Joint Instability/therapy
Kyphosis/etiology
Kyphosis/therapy
Lordosis/etiology
Lordosis/therapy
Lung Diseases/etiology
Lung Diseases/therapy
Practice Guidelines as Topic
Sleep Apnea, Obstructive/etiology
Sleep Apnea, Obstructive/therapy
Spinal Stenosis/etiology
Spinal Stenosis/therapy
Therapies, Investigational
Achondroplasia
Biotherapies
Clinical management
FGFR3
Treatment
eng
60_published
true
peer-reviewed
Publication types: Journal Article ; Review
Publication Status: ppublish
University of Lausanne
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