The Riley-Day syndrome is the most common of the hereditary sensory and autonomic neuropathies (Type III). Among the well-recognized clinical features are reduced pain and temperature sensation, absent deep tendon reflexes and a progressively ataxic gait. To explain the latter we tested the hypothesis that muscle spindles, or their afferents, are absent in hereditary sensory and autonomic neuro...

Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diag...

Hereditary neuropathies are common neurological conditions characterized by progressive loss of motor and/or sensory function. There are no effective treatments. Among the many causes of hereditary neuropathies are dominant mutations in serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), which cause hereditary sensory and autonomic neuropathy type 1 (HSAN1). By incorporating L-alan...

A Kashmiri family with 3 members affected by a congenital sensory and autonomic neuropathy and corneal opacification is described. The 3 affected cases were offspring of consanguinous marriages in two generations; autosomal recessive inheritance is therefore probable. Pain and temperature sensation was lost in the limbs with a resulting mutilating acropathy. Sudomotor function was also impaired...

Neuropathic Disorders The peripheral nervous system (PNS) comprises the cranial nerves, spinal nerve roots, dorsal root ganglia, the peripheral nerve trunks (motor and sensory nerves), the terminal branchings of motor nerves as they innervate skeletal muscle, and the peripheral autonomic system [1]. Disorders of the parent cell bodies located in the spinal cord (and/or brainstem) are discussed ...

Congenital Insensitivity to Pain belongs to the family of Hereditary Sensory and Autonomic Neuropathies (HSAN). It is a rare disorder of unknown etiology associated with loss of pain sensation. Cognition and sensation is otherwise normal and there is no detectable physical abnormality. We report a case of Congenital Insensitivity to Pain in a 3 year old female child.

The hereditary sensory and autonomic neuropathies (HSAN) encompass a number of inherited disorders that are associated with sensory dysfunction (depressed reflexes, altered pain and temperature perception) and varying degrees of autonomic dysfunction (gastroesophageal reflux, postural hypotention, excessive sweating). Subsequent to the numerical classification of four distinct forms of HSAN tha...

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...