Objective: To evaluate upper limb functioning, restrictions on participation and the independent contribution of upper and lower limb disability to participation in hereditary motor and sensory neuropathy 1a.
Design: Descriptive cross-sectional study.
Subjects: Forty-nine patients with hereditary motor and sensory neuropathy 1a.
Methods: Perceived upper limb functioning was evaluated using the Michigan Hand Outcomes Questionnaire and participation restrictions with the Impact on Participation and Autonomy Questionnaire. Upper and lower limb domains of Guy's Neurological Disability Scale were used to determine their impact on participation restrictions.
Results: Limitations in upper limb functioning were perceived by 98% of the patients. Median scores ranged between 70 points for overall hand function and 100 points for aesthetics (scale 0-100). Patients were least satisfied with dominant hand performance. Most patients (46-78%) reported their participation to be sufficient. Restrictions were reported in the domains work, family roles, and autonomy outdoors. Minor problems with restricted participation were indicated by 22-55%, severe problems by 2-12%. Upper limb functioning correlated significantly with all participation subscales. Upper limb disability was independently associated with participation restrictions, whereas lower limb disability was not.
Conclusion: Limitations in upper limb functioning were perceived by the majority of patients with hereditary motor and sensory neuropathy 1a and strongly related to restricted participation.