Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset. The exact prevalence is unknown, but is estimated as very low. Disease onset varies between the 2nd and 5th decade of life. The main clinical featu...

The aim of this study was to evaluate A-delta fibre function in a patient with hereditary sensory-autonomic neuropathy (HSAN). We used the mixed and cutaneous silent period techniques in addition to a conventional electromyographic investigation in a patient with type 2 HSAN, a rare disease characterised by wide-spread sensory and variable autonomic dysfunction caused by incomplete development ...

This paper is a companion to “Sensory Awareness is not a Wide Physical Relation: An Empirical Argument against Externalist Intentionalism” (forthcoming, with a reply by Michael Tye, in Nous). I generalize the argument of that previous paper. I attempt to show that, given the mild form of Internalism argued for in the previous paper, it is not only the case that the awareness relation cannot be ...

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize du...

Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. These patients usually present in late infancy. Here we...

Painless fractures with delayed healing or abnormal callus formation require exclusion of a systemic disorder. We report a 9-year-old girl with hereditary sensory and autonomic neuropathy type IV who developed bone changes in the hind foot after a protracted healing of a tibia fracture. Osteomyelitis was considered as a possible cause of destruction of the tarsal bones. Negative sweat test docu...

Hereditary sensory and autonomic neuropathies (HSAN) are a diverse group of diseases involving the peripheral nervous system. Patients present with profound distal sensory loss and variable degrees of autonomic disturbances. Multiple subtypes have been defined based on clinical symptoms and genetic testing. We present a case report of a nine month-old female with recurrent hand lesions and an a...