Hereditary Spastic Paraplegia (HSP) is a diverse group of genetic neurological conditions causing progressive weakness and spasticity in the lower limbs, severely reducing balance and gait capabilities. There is currently a lack of structured neurorehabilitation programs aimed at improving gait in adults with HSP. This protocol seeks to assess the feasibility and effectiveness of a structured training approach focusing on flexibility, muscle strength, motor control, balance, and aerobic capacity.
To this end, twenty adults diagnosed with HSP will engage in 10 to 16 sessions, each lasting 60 to 120 minutes, guided by a therapist once or twice a week, depending on individual preferences. At the end of the program, participants will receive a transfer package, including written instructions (a manual) and video tutorials, to encourage ongoing exercise at home. Assessments will occur before the intervention (T0), immediately after (T1), and three months later (T2). The primary outcomes will measure the feasibility of the program, including recruitment, retention, adherence, the absence of adverse events, and patient satisfaction. Secondary outcomes will focus on improvements in gait capabilities such as gait endurance and gait speed.
Adults diagnosed with Hereditary Spastic Paraplegia.
Presence of any functional deficit in the lower limbs that affects walking, such as muscle weakness, hypertonia, or balance issues.
Ability to walk without the need for physical contact with another person, as defined by a Functional Ambulation Category score of 3 or higher.
Ability to understand simple instructions, comprehend the purpose of the study, willingness to participate and undergo at least 10 treatment sessions, eligible and willing to sign the informed consent.
Botulinum toxin or surgery to treat lower limb hypertonia in the six months prior to enrollment in the study.
Contraindications for moderate physical activity, such as stretching exercises, muscle strength training, and aerobic capacity training.
Single group
Flexibility, Resistance, Aerobic, Movement Execution training
BehavioralFlexibility: static and dynamic stretching combined with sensory, high-frequency electrical stimulation to reduce spasticity and improve mobility. Resistance training: core stability and lower limb strength training in conditions of instability, to improve strength, coordination, and balance. Movement execution training: gait training according to motor learning principles. Aerobic exercise: in the form of high-intensity interval training at the end of each session, to improve cardiovascular status and foster motor learning consolidation (probably due to the release of brain derived neurothrophic factors).
Feasibility (recruitment rate).
Study feasibility in terms of achieving sufficient recruitment rate, defined as the enrollment of 20 patients within 24 months from the start of the study.
Feasibility (adherence rate).
Study feasibility in terms of achieving adequate adherence to the treatment plan, defined as completing at least 75% of the scheduled treatment sessions, and in any case a minimum of 10 treatment sessions.
Feasibility (retention rate).
Study feasibility in terms of achieving sufficient patient retention, defined as at least 75% of the enrolled patients completing the study with adequate adherence to the treatment.
Feasibility (safety).
Study feasibility in terms of absence of any serious adverse event related to patient participation in the study.
Six Minute Walking Test (6MWT).
The 6MWT is a clinical assessment of gait endurance, by measuring the distance covered (metres) while walking on a straight even path (30 meters) for six minutes. According to original instructions, the patient is asked to walk along the path as fast as possible, taking turns at the edges of the path. Patients are allowed to walk autonomously or with assistive devices and to rest by standing.
Ten Metre Walk Test (10MWT).
The 10MWT is used to assess walking speed in meters/second (m/s) over a short distance. The total time taken to walk six meters (the central portion of a 10-meter walkway) is recorded to the nearest hundredth of a second. 6 meters is then divided by the total time taken to ambulate and recorded in m/s. Two trials at comfortable pace are performed, followed by two trials at fast pace. Averages (one for comfortable pace, one for fast pace) are recorded.
Passive range of motion.
An inclinometer will be used to measure the passive range of motion for ankle dorsiflexion, knee flexion, hip abduction, and hip extension, on both sides.
Hereditary Spastic Paraplegia - Self Notion and Perception Questionnaire (HSP-SNAP).
HSP-SNAP is a questionnaire used to assess the self-perception of individuals diagnosed with hereditary spastic paraplegia (HSP). HSP-SNAP includes 12 questions, with 2 items dedicated to each symptom dimension (stiffness, weakness, imbalance, reduced endurance, fatigue, and pain). Each pair of items for a given dimension includes both positive and negative responses to prevent automatic answers. The HSP-SNAP employs a 5-point Likert scale (1 = strongly disagree, 2 = disagree, 3 = neutral, 4 = agree, 5 = strongly agree). To account for both positive and negative items, scoring is as follows: for items with a positive tone, the score is calculated as "patient's score minus 1" (pt score-1); for negative items, the score is "5 minus the patient's score" (5-pt score). The overall score is the sum of all item scores, ranging from 0 to 48. A higher score indicates better well-being and milder symptoms.
Functional Reach Test (FRT).
FRT evaluates dynamic balance while standing. Patient is asked to stand with one shoulder flexed at 90 degrees and the hand making a fist, and then to bend forward up to the limit of balance, right before taking a step to prevent falling. A horizontal ruler taped on the wall is used to measure the difference in position of the head of the third metacarpal bone from starting to end position. Patients are not allowed to touch the wall or rotate the trunk while bending forward.
Five times Sit-to-Stand (5TSTS).
The 5TSTS test is an assessment to evaluate lower body strength, balance, and functional mobility. The test involves the participant sitting in a chair, then standing up and sitting down five times as quickly as possible, without using their arms for assistance. The time taken to complete the five repetitions is recorded.
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