Background: Charcot-Marie-Tooth disease (CMT) is a neurological condition of genetic etiology classified among rare diseases. The aim of the study was to subject two CMT-1A patient sisters to an ad-hoc training program of 6 weeks (18 sessions) and to record and obtain improvements in proprioception, stability, balance, mobility, and strength. Methods: Two sisters aged 32 and 30 respectively, with moderate disability (CMT-Neuropathy Score (CMTNS) of 11/36), with pes cavus, hindfoot varus, and a limited ankle range of motion in foot dorsiflexion. General weakness, early fatigue, and impaired gait were also present in the two patients. Both patients, with the same initial deficits, underwent this new intense training program consisting of 60-minute workouts 3 times a week any other day for 6 weeks (a total of 18 sessions). Results: The study showed positive results on the following scales: Romberg test; 6 MWT; 30-ACT; 30 CST; TUG; Q-Walk-12, and Q-SF-36. Conclusion: The study aimed to underline the importance of an early disease training approach to limit its progression. The study demonstrated a positive impact of a 6-week gym training program based on monopodalic standing and quadrupedal exercises on proprioceptive abilities, postural stability, and improved balance.

PROPOSAL OF PHYSICAL EXERCISES FOR CHARCOT MARIE TOOTH DISEASE PATIENTS: A TAILORED APPROACH

Grandis M.;Massucco S.;
2023-01-01

Abstract

Background: Charcot-Marie-Tooth disease (CMT) is a neurological condition of genetic etiology classified among rare diseases. The aim of the study was to subject two CMT-1A patient sisters to an ad-hoc training program of 6 weeks (18 sessions) and to record and obtain improvements in proprioception, stability, balance, mobility, and strength. Methods: Two sisters aged 32 and 30 respectively, with moderate disability (CMT-Neuropathy Score (CMTNS) of 11/36), with pes cavus, hindfoot varus, and a limited ankle range of motion in foot dorsiflexion. General weakness, early fatigue, and impaired gait were also present in the two patients. Both patients, with the same initial deficits, underwent this new intense training program consisting of 60-minute workouts 3 times a week any other day for 6 weeks (a total of 18 sessions). Results: The study showed positive results on the following scales: Romberg test; 6 MWT; 30-ACT; 30 CST; TUG; Q-Walk-12, and Q-SF-36. Conclusion: The study aimed to underline the importance of an early disease training approach to limit its progression. The study demonstrated a positive impact of a 6-week gym training program based on monopodalic standing and quadrupedal exercises on proprioceptive abilities, postural stability, and improved balance.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11567/1266956
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