Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder affecting 1 in 3000 live births. The musculoskeletal system in adult NF1 patients has not been extensively studied. This observational study aimed to characterize musculoskeletal impairment in a cohort of adult NF1 patients. We collected anthropometric data, and data on level of physical activity (PA), muscle strength, muscle performance, bone mineral density, and perceived physical and mental health. The cohort was subdivided according to the patients’ level of PA (defined as inactive, sufficiently active, active/very active), and outcomes were compared between the three groups. Eighty-three patients (37 M; 46 F) affected by NF1 were recruited. Seventeen (20.5%) were inactive (Group 0), 38 (45.8%) were sufficiently active (Group 1), and 28 (33.7%) were active or very active (Group 2). When comparing the three groups, statistically significant differences were found between Group 0 and Group 2 (p < 0.05) on the three sub-items of the Short Physical Performance Battery. Thirty patients completed the densitometric bone evaluation, which showed osteopenia in 7 patients (23.3%), and osteoporosis/reduced values for sex and age in 4 (13.3%). No statistically significant differences in densitometric findings were found between the three groups (p > 0.05).
This study provides a musculoskeletal characterization of a cohort of adult NF1 patients from southern Italy. Muscle strength was lower compared with that of the general population, and bone strength was compromised in one-third of our cohort. Physical activity might help to preserve bone health in NF1 patients. Future research should address the long-term effects of PA on bone strength in this population.
KEY WORDS: Neurofibromatosis type 1, physical activity, skeletal muscle, bone mineral density.
