Neurological and Psychiatric Comorbidities Patients With FSHD 1 and 2

N/ACompletedNCT02032979

Centre Hospitalier Universitaire de Nice6 enrolled

Overview

The investigators propose to conduct a comparative pilot cognitive and psychiatric profiles of 10 patients Facio-Scapulo-Humeral Dystrophy (= FHSD) type 1 and 10 patients with type 2 FSHD study. For this, the investigators relied on observational components: FSHD2 patients appear more often present with psychiatric comorbidities and seem to have lower cognitive performance compared to FSHD1 patients. This was confirmed by a preliminary study on a small sample population of patients. It seems to exist mainly executive dysfunction associated with attention disorders in patients FSHD2. Moreover, their performance in IQ tests would be low in relation to their socio-educational and compared with patients FSHD1 level.

Study Type

INTERVENTIONAL

Allocation

Purpose

BASIC_SCIENCE

Masking

NONE

Enrollment

Conditions

Muscular Dystrophy, Facioscapulohumeral

Interventions

Eligibility

Sex: ALLMin age: 18 YearsMax age: 75 Years

Medical Language ↔ Plain English

Inclusion Criteria: * age ≥ 18 years and \<75 years * FSHD patients 1 or 2 with genetic confirmation Exclusion Criteria: * Phosphokinase creatine level \> 5 time of the normal * Patient as medical history : * A history or active neurological disease likely to interfere with the interpretation of results * a history of head trauma * an infectious disease, hormonal, inflammatory or some deficiency may induce cognitive and / or psychiatric troubles * Patient with cons-indication for performing a brain MRI * Pregnant, parturient and lactating (producing a serum pregnancy test)