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Detection of hereditary motor sensory neuropathy type I in childhood
T E Feasby1, A F Hahn, C F Bolton
1University of Western Ontario, Department of Clinical Neurological Sciences, London, Canada.
Insights
Hereditary motor sensory neuropathy type I (HMSN I) can be detected in children under 10, even infants. Early signs include subtle clinical findings and slowed nerve conduction, indicating reliable early diagnosis is possible.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Hereditary motor sensory neuropathy type I (HMSN I), also known as Charcot-Marie-Tooth disease type 1A, is a common inherited peripheral neuropathy.
- Early diagnosis and understanding of disease progression in pediatric populations are crucial for effective management.
Purpose of the Study:
- To investigate the prevalence and clinical manifestations of HMSN I in children with an affected parent.
- To determine the earliest age at which HMSN I can be reliably detected in children.
Main Methods:
- Clinical examination of 36 children under 10 years with a parental history of HMSN I.
- Electrophysiological assessment, including motor nerve conduction velocities (NCVs).
Main Results:
- 17 out of 36 children (47%) exhibited clinical signs and/or slowed motor NCVs.
- Four children, including infants, demonstrated slowed NCVs.
- Subtle clinical signs included pes planus, distal foot wasting, ankle weakness, and areflexia.
Conclusions:
- HMSN I is detectable in children under 10 years of age, with reliable identification possible even in infants.
- Early electrophysiological and subtle clinical signs are indicative of HMSN I in at-risk children.
Abstract:
Clinical signs and slowed motor nerve conduction velocities were found in 17 of 36 children under 10 years of age who had one parent with hereditary motor sensory neuropathy type I (HMSN I). Four children had slowed conduction velocities at one year or less. Clinical signs were subtle and included pes planus, distal foot wasting, weakness of ankle eversion and dorsiflexion and areflexia. HMSN I can be detected reliably in children, even before one year of age.