IntroductionCharcot‐Marie‐Tooth disease (CMT) is the most common inherited peripheral neuropathy with CMT type 1A (CMT1A), the most common form of CMT. Hand weakness was recently reported to affect 42% of children aged 3–20 years with CMT (Cornett et al., ) but the extent of these are not known.Riboflavin Transporter Deficiency type 2 (RTD2) is a progressive neurodegenerative condition due to defects in riboflavin transporter type 2 secondary to mutations in the SLC52A2 gene. RTD2 is a generalised sensory neuropathy with upper limb predominant motor neuropathy, auditory neuropathy, muscle weakness, bulbar palsy, sensory ataxia and respiratory failure. Although upper limb predominant weakness has been reported in RTD2, (Foley et al., ; Menezes et al., ) the extent of upper limb impairment and subsequent impact on functional ability has not been well characterised.Validated outcome measures exist for assessing hand dysfunction in CMT, including the Functional Dexterity Test, Nine‐Hole Peg Test and Grip strength from the CMT Paediatric Scale (CMTPedS), (Burns et al., ) tip and pinch strength and the handwriting speed test (Kunovsky et al., ). Children with CMT1A have impaired Nine‐Hole Peg Test times from as young as 3 years of age (Burns et al., ), decreased grip strength (Cornett et al.,
Journal of the Peripheral Nervous System – Wiley
Published: Jan 1, 2018
Keywords: ; ; ; ;
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