Severe bone microarchitecture deterioration in a family with hereditary neuropathy: evidence of the key role of the mechanostat

Summary In this report, we present three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by HR-pQCT. Charcot-Marie-Tooth disease (CMT) or hereditary neuropathy involves both motor and sensory nerves. Falls are often th...

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Bibliographic Details
Published in:Osteoporosis international 2020-12, Vol.31 (12), p.2477-2480
Main Authors: Abdala, R., Levi, L., Longobardi, V., Zanchetta, M. B.
Format: Article
Language:English
Subjects:
Bone and Bones
Bone Density
Bone growth
Bone resorption
Calcium
Case Report
Charcot-Marie-Tooth disease
Computed tomography
Diagnosis
Endocrinology
Exercise
Fractures
Hereditary Sensory and Autonomic Neuropathies
Humans
Laboratories
Mechanical stimuli
Medicine
Medicine & Public Health
Mutation
Orthopedics
Osteoblasts
Osteoclasts
Osteogenesis
Osteoporosis
Peripheral neuropathy
Phosphatase
Physical activity
Physical fitness
Radius
Rehabilitation
Rheumatology
Risk factors
Sensory neurons
Supplements
Tibia
Tibia - diagnostic imaging
Vitamin D
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Summary:Summary In this report, we present three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by HR-pQCT. Charcot-Marie-Tooth disease (CMT) or hereditary neuropathy involves both motor and sensory nerves. Falls are often the first manifestation in these patients and represent an important risk factor for fracture. The reduction of mechanical input on bone inhibits bone formation by osteoblasts and accelerates bone resorption by osteoclasts, leading to disuse osteoporosis. We report three cases of individuals from the same family with a diagnosis of CMT with severe tibia bone microarchitecture deterioration assessed by high-resolution peripheral quantitative computed tomography (HR-pQCT). This affectation was exclusive to the tibia; the radius remained undamaged, showing the consequences of the lack of mobility and mechanical stimulation. Physical activity and rehabilitation, in addition to adequate calcium and vitamin D supplementation, may play an essential role in the management of this disease.
ISSN:0937-941X
1433-2965
DOI:10.1007/s00198-020-05674-9