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Charcot-Marie-Tooth (CMT), a therapeutically orphan neuromuscular disease affecting one in 2,500 people, represents a challenge to the medical and scientific communities. Physiotherapeutic-rehabilitative strategies play a crucial role in the management of CMT, particularly addressing balance impairment, a key disabling symptom. However, clinical studies in this field are limited. Our study aims to investigate the impact of strengh and somatosensory deficits on static and dynamic balance in CMT patients. The Investigators also aim to explore the involvement of the vestibular system and its correlation with postural instability. Furthermore, the Investigators seek to evaluate relationships between neurochemical biomarkers offering valuable insights for future targeted clinical studies.
A total of 60 patients will be recruited. To ensure adequate representation of the subgroups of interest, 10 patients with CMT1A (PMP22 gene duplication) and 10 patients with CMT2, regardless of their genotype, will be included. Additionally, three control groups, each comprising 10 subjects, will be included. The first group will consist of patients with motor symptoms, including those with hereditary motor neuropathy (HMN, 10 patients) or distal myopathy (MD, 10 patients). The second group will include patients with solely sensory symptoms, genetic neuropathies, or purely sensory acquired neuropathies such as HSN and neuropathies from anti-MAG antibodies. Finally, the third group will be composed of 10 healthy subjects. Each control subject will have comparable level of disability (motor or somatosensory), age, and gender to the enrolled CMT patients.
All participants must meet the following inclusion criteria to take part in the study:
Age 18 years or older
Subject has documented diagnosis of one of the following diseases (except from healthy controls):
The presence of any one of the following exclusion criteria will lead to the exclusion of the subject:
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| CMT patients | patients with sensory-motor genetic neuropathy | ||
| Motor patients | Patients with motor genetic neuropathy | ||
| Sensory patients | Patients with sensory neuropathy | ||
| Myopathic patients | Patients with distal myopathy |
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| Measure | Description | Time Frame |
|---|---|---|
| Postural equilibrium | How sensory and motor deficit influence the postural equilibrium | 12 months |
| Measure | Description | Time Frame |
|---|---|---|
| Vestibular equilibrium | how vestibular system influence the postural equilibrium | 12 months |
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Inclusion Criteria:
Exclusion Criteria:
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10 CMT1A patient, 10 CMT2, 10 HMN, 10 sensory neuropathies, 10 distal myopathies, 10 healthy controls.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Stefano C Previtali, MD | Contact | 00390226433036 | neuromuscolare@hsr.it | |
| Benedetta Sorrenti, MD | Contact | 00390226433036 | neuromuscolare@hsr.it |
| Name | Affiliation | Role |
|---|---|---|
| Stefano C Previtali, MD | IRCCS Ospedale San Raffaele | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Dept. of Neurology, IRCCS Ospedale San Raffaele | Recruiting | Milan | 20132 | Italy |
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