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.

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

ANZCTR

Registry ID

ACTRN12605000128695

Enrollment

Registered

2005-08-11

Start date

2004-02-01

Completion date

Unknown

Last updated

2020-01-13

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

None listed

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 testing, and blood sampling for genetic testing.

Eligibility

Sex/Gender

All

Age

0 to No maximum

Healthy volunteers

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

Outcome results