Objective: To assess the inter-rater and intra-rater reliability and validity of the original and a modified Medical Research Council scale for testing muscle strength in radial palsy. Design: Prospective, randomized validation study Patients: Thirty-one patients with peripheral paresis of radial innervated forearm muscles were included. Methods: Wrist extension, finger extension and grip strength were evaluated by manual muscle testing. Dynamometric measurement of grip strength was performed. Pair-wise weighted kappa coefficients were calculated to determine inter-rater and intra-rater reliability. The 2 scores were compared using the signed-rank test.

Mutations in the serine palmitoyltransferase subunit 1 (SPTLC1) gene are the most common cause of hereditary sensory neuropathy type 1 (HSN1). Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation. Normal plasma sphingolipids were unchanged but 1-deoxy-sphingolipids were significantly elevated. In contrast to other HSN patients reported so far, our findings strongly indicate that mutations at amino acid position Ser331 of the SPTLC1 gene lead to a distinct syndrome.

The combined measurement of chronaxie and the accommodation index can be recommended for the screening of neurogenic lesions in the acute denervation phase.

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