Pediatric and Adult Registry for Patients With ARThrogryposis

Overview

The aim of the study is Epidemiological Evaluation of a single-centre national cohort of patients with Arthrogryposis multiplex congenita (AMC)

Arthrogryposis multiplex congenita (AMC) is a group of rare diseases characterized by joint limitation at least two distinct articular levels at birth which represents about 100 to 200 births with AMC in France per year. The Reference Center (CR) at Grenoble Alpes University Hospital set up multidisciplinary consultations for pediatric and adult patients with AMC such as (MPR, orthopedics, genetics for children and adults, and pulmonologist, rheumatologist for adults , also including individual or group therapeutic education sessions) . For develop the diagnostic and follow-up approach, the Reference center initiated the drafting of a diagnostic and care protocol (PNDS), on the one hand based on the data of the literature and on the other hand on expert opinions. The project is based on four elements : 1. This project is pediatric and adult registry. It should be possible to obtain more comprehensive prognostic data, particularly in relation to complications and possible comorbidities related to older ages. 2. The Recruitment of the patient is done immediately in France who's followed at the reference center in Grenoble Alpes University Hospital. 3-There are several ways for patient addressing. Indeed these are also addressed by the professionals or patients contact the center directly 4-The Patient's assessments are multidisciplinary from the outset, this should lead to get comprehensive functional and diagnostic data.

Conditions

Eligibility

Locations (1)

Outcomes

Central Contacts