DAIPT is a neurologic disorder characterized by skeletal contractures and a marked decrease in the ability to perceive touch, vibration or proprioception. Affected individuals also suffer from sensory ataxia, walking difficulties, dysmetria, dysarthria, impaired fine motor skills, areflexia, hypotonia and muscle weakness. Neurological investigations reveal mild sensory axonal neuropathy and reduced amplitude of sensory nerve action potentials. Other symptoms include short stature, neonatal respiratory insufficiency, scoliosis, congenital hip dysplasia, hand and foot deformities, and facial dysmorphia such as a long nose with a wide nasal bridge, a thin upper lip, a high arched palate and myopathic facies.
The condition has an onset in the first decade of life. DAIPT is a rare disease and only a handful of cases have been reported thus far. There is hence limited knowledge on the prevalence and prognosis of the disorder. It is, however, a progressive condition, and symptoms such as skeletal contractures and neuropathy are expected to worsen over time.
The condition can be diagnosed based on clinical investigations such as an algometer to measure the pain threshold, an esthesiometer for skin tactile sensitivity and a Peltier-based thermode to measure the threshold for thermal pain detection. There is currently no cure for the disorder, and treatment is focused on symptomatic support.