Mutations in HSPB1 are one of the commonest causes of distal Hereditary Motor Neuropathy (dHMN). Transgenic mouse models of the disease have identified HDAC6 inhibitors as promising treatments for the condition paving the way for human trials. A detailed phenotype and natural history study of HSPB1 neuropathy is therefore required in order to inform the duration and outcome measures of any futu...

objectives:the purpose of this study was to investigate of effects of sensory integration therapy (sit) on social interaction and sensory and motor performance in children with autism spectrum disorders (asd). methods:24 children with asd (22 boys, 2 girls), aged 6-12 years that matched on iq and gender, were randomly assigned to an experimental or control group. we requested participants of th...

A patient with chronic inflammatory demyelinating polyneuropathy (CIDP) established by biopsy developed cauda equina symptoms due to swelling of the nerve roots in the lumbar spinal canal. Magnetic resonance imaging of the lumbar spine showed profoundly thickened nerve roots from the level of the conus medullaris, filling the caudal thecal sac. Immunosuppressant treatment produced partial clini...

Diabetic neuropathy affects peripheral nerves (sensory, motor, autonomic) so all organ systems can be affected. In childhood, subclinical forms are typical when no clinical symptoms are evident, however sensitive diagnostic methods can detect them. Later, autonomic and sensory-motor neuropathy is very common (see the classification in table 1). Some forms of diabetic neuropathy are presented in...

Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of disorders characterized by weakness and wasting of distal limb muscles without overt sensory abnormalities. Recently, autosomal dominant dHMN has been mapped to chromosome 12q24 and 7q11-q21. We present a family with autosomal dominant adult onset dHMN type II consisting of fi ve affected individuals spanning three generation...