Facioscapulohumeral Muscular Dystrophy
Conditions
Keywords
facioscapulohumeral muscular dystrophy, electrostimulation, training
Brief summary
The investigators evaluated clinical tolerance, biological tolerance, feasibility and efficacy of daily electrostimulation training of shoulder girdle and quadriceps muscles in 10 patients with facioscapulohumeral muscular dystrophy, the third most common inherited myopathy.
Detailed description
Autosomal dominant FSHD is characterized by selective pattern of muscle involvement. Weakness and atrophy typically involve facial and shoulder girdle muscles, and progressively anterior forearm and foreleg muscles and pelvic girdle muscles. The physiopatholgical mechanism of this disease, due to a deletion of repeated units named D4Z4 located on 4q35, is still controversial. Up to date, no curative therapy is available for these patients. We proposed in the present study to test feasibility, clinical and biological tolerance and efficacy of shoulder muscle training by electrostimulation in a group of FSHD patients. 10 patients displaying classical FSHD phenotype participate to this study consisting in daily session of shoulder girdle and quadriceps muscles electrostimulation of 23 minutes for a period of 5 months. We evaluated: clinical tolerance by daily pain and fatigue analogic scales, biological tolerance by measuring CK; feasibility: by measuring the monthly score of participation to sessions; the efficacy by manual muscle testing, quantitative muscle assessment, fatigue severity scale.
Interventions
PROCEDUREelectrostimulation
Electrostimulation of shoulder girdle and quadriceps muscles in facioscapulohumeral muscular dystrophy patients
Sponsors
Centre Hospitalier Universitaire de Nice
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 75 Years
Healthy volunteers
No
Inclusion criteria
* 18 to 75 years old patient * FSHD diagnosis confirmed by molecular biology * FSHD clinical phenotype including shoulder girdle and quadriceps involvement * Patient with Vignos scale ≤ 5 (patient able to walk) * Patient with health insurance * Patient that could be followed for at least 6 months
Exclusion criteria
* Patient with monolateral or bilateral scapular omopexia * Patient that has already had electrostimulation training * Patients with CK values \> 5 time normal values * Patient that has not signed informed consent * Patient with cancer, collagenopathies or others joint diseases * Pregnancy and breast-feeding * Patient on guardianship or trusteeship. * Patient actively participating to other biomedical researches or whose exclusion period is not ended * Patient with a formal contraindication to the protocol detected by inclusion examinations
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Clinical tolerance evaluated by fatigue and pain analogic scale. Biological tolerance:evaluated by measuring CK values.The feasibility:evaluated by considering monthly average length of sessions, monthly score of participation to sessions | daily, 1, 3 and 5 months |
Secondary
| Measure | Time frame |
|---|---|
| Efficacy of electrostimulation training in FSHD patients will be evaluated comparing manual muscle testing, Barré test, quantitative muscle assessment, fatigue severity scale, 6 minutes walking test before the therapy | after 3 months of therapy and at the end of the study, after 5 months. |
Countries
France
Outcome results
None listed