Improved characterisation of the clinical phenotype of Hereditary Motor Sensory Neuropathy of neuronal type with onset of symptoms in early childhood, especially with respect to disease progression with age and the incidence of such complications as foot deformity, contractures, scoliosis and respiratory involvement - an observational study.

Not Applicable

Recruiting

• Conditions: Hereditary motor sensory neuropathy of neuronal type with onset in early childhood; Human Genetics and Inherited Disorders - Other human genetics and inherited disorders; Neurological - Other neurological disorders

• Registration Number: ACTRN12605000128695
• Lead Sponsor: The Children's Hospital at Westmead

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Results First Posted: 1900-01-01
• Study Start: 2005-08-11
• Last Update Posted: 13 January 2020

Recruitment & Eligibility

• Status: Recruiting
• Sex: All
• Target Recruitment: 20

Inclusion Criteria

Subjects will have a diagnosis of HMSN of neuronal type with onset in early childhood, based upon their clinical findings and family history, neurophysiological assessments and, where applicable, pathological testing (nerve and muscle biopsies).

Exclusion Criteria

No exclusion criteria

Study & Design

• Study Type: Observational
• Study Design: Not specified