516 - Challenges in managing Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome in a rehabilitation department

Case Diagnosis: Neurodegeneration with ataxia, dystonia and gaze palsy (NADGP) is a rare, progressive, autosomal recessive disorder. Symptômes include  gait ataxia, dystonia, cognitive decline, and oculomotor palsy. The impairment  of various postural inputs leads to significant disability in daily life. We report a series of siblings diagnosed with NADGP(diagnosis confirmed by clinical and genetic criteria)  who were referred to physical medicine and rehabilitation department

Case Description:

A 37-year-old brother and a 31-year-old sister, have been followed for NADGP since childhood were admitted in  physical medicine and rehabilitation department to explore and treat loss of autonomy and recurrent falls. An ophthalmological examination revealed myopia and oculomotor palsy. Podometry showed a neurologic foot .A postural assessment using the Satel force platform showed asymmetry of support, an oscillation surface above normalized values (+4754). A dental examination revealed temporomandibular joint dysfunction and bruxism, aggravating the patients' postural disorders. These disorders were assessed by Tinetti scores ( 8/28 and 6/28 for the brother and sister respectively, indicating a very high risk of falls). The therapeutic strategy aimed to correct these identified deficiencies. Both patients had intensive rehabilitation, postural rehabilitation sessions on a stabilometric platform twice a week, correction of myopia, dental care, and a dental splint. An anti-kyphosis corset was prescribed to achieve better axial alignment and frontal stability.

Discussions:

to our best knowledge it’s the first case report published  examining managment of NADGP. Previous  published papers mainly focus on genetic diagnosis and  different mutations found

. No study has highlighted the therapeutic modalities to be implemented in these patients with multiple disabilities and  severe handicap.

Conclusions:

NADGP significantly impairs all postural inputs. The ensuing deficits are complex, severe and progressive.  Comprehensive and multidisciplinary approaches are essential to restaure autonomy and improve quality of life pf patients.