RecruitingACTRN12605000128695
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.
Sponsor
The Children's Hospital at Westmead
Enrollment
20 participants
Start Date
Feb 1, 2004
Study Type
Observational
Conditions
Eligibility
Sex: Both males and females
Inclusion Criteria1
- 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).
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Interventions
This study primarily constitutes a review of a well-defined cohort of patients. The interventions planned include clinical examination and quantitative strength testing, a hip X-ray, neurophysiology t
This study primarily constitutes a review of a well-defined cohort of patients. The interventions planned include clinical examination and quantitative strength testing, a hip X-ray, neurophysiology testing, and blood sampling for genetic testing.
Locations(1)
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ACTRN12605000128695