Long-term outcome for patients with arthrogryposis multiplex congenita

PURPOSE: To access the long-term outcomes for patients with arthrogryposis multiplex congenita at adult age. MATERIALS AND METHODS: The cases were traced for most of them thanks to direct contact maintained from child hood, from colleagues interested from other parts of the country, and from the list from Alliance arthrogryposis association (parents and patients). The methods used were: mostly direct clinical examination, some phone calls or email. All answered a questionnaire for general life and mainly for function. One of these questions was: what is the function you missed most during your life? RESULTS: 65 patients( 41 females and 24 males) were reviewed at adult age from 22 to 65 years. For the personal life: 38 are married and had 34 children with only 4 having arthrogryposis. Only 27 (15 F/12 M) were living alone. Self-sufficiency was observed in 35, partial in 20, total dependence in 10 people. 38 reached university level, 20 had secondary school level, 10 had primary school level. Ambulation was made possible with wheelchair: permanent for 18, partial for 9 ambulating at home only, 8 ambulating outside with crutches and 29 were free walkers. 36 patients out of 65 were driving a car sometimes modified with special equipment. The involvement of spine was seen in 26 patients requiring surgical treatment sometimes complex combining anterior and posterior approach in 14 cases. Surgery of the lower limbs (hips, knee, feet) was very often repeated, with almost always stability, pain free and function. The most important finding was that 52 patients had more or less severe involvement of the upper limbs which was considered by the majority of the patients to be the most disabling, more than the absence of walking! CONCLUSION: Finally, it appeared that for the care of these patients, priority goes to the upper limbs function, because majority of these patients have a high level of intelligence. A remarkable fact is that many of these patients had to spend a lot of time during infancy and childhood in rehabilitation centers with education adapted for schools and teachers. Finally, they are grateful for that, telling often that it would have been much more difficult if not impossible to have such a treatment and education at home.