Balance Training Using an iPhone Application in People With Familial Dysautonomia: Three Case Reports

Otodental syndrome: three familial case reports.

Spondylodiscitis in familial dysautonomia: a case report.

Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal pro...

Familial dysautonomia.

Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...

Endurance exercise training to improve economy of movement of people with Parkinson disease: three case reports.

BACKGROUND AND PURPOSE Even early in Parkinson disease (PD), individuals have reduced economy of movement. In this case report, the effects of endurance exercise training are examined on walking economy and other measures for 3 individuals in early and middle stages of PD. PATIENTS The patients were 1 woman and 2 men with PD, aged 52 to 72 years, classified at Hoehn and Yahr stages 2 to 2.5. ...

Familial Dysautonomia (FD)

Familial dysautonomia (FD) is an autosomal recessive congenital neuropathy which results from poor development and progressive degeneration of the nervous system. The mutation responsible for FD was found at the 5�ss of intron 20 of the IKBKAP gene, encoding the I?B kinase complex-associated protein (IKAP...