Autosomal dominant HMSN with proximal involvement: new Brazilian cases.
We report four Brazilian siblings with Autosomal Dominant Hereditary Motor Sensory Neuropathy with Proximal Dominant Involvement (HMSN-P), a rare form of HMSN, that was characterized by proximal dominant muscle weakness and atrophy onset after the age of 30 years, fasciculation, arreflexia and sensory disturbances with autosomal dominant inheritance. Electrophysiological study and sural nerve biopsy were in the accordance with axonal sensory motor polyneuropathy and laboratorial analysis disclosed serum lipids and muscle enzymes abnormalities. Our report is the first done by a group outside Japan, where the disease initially seemed to be restricted and stressed the phenotypic variability from the original report.
Neurology Clinic, School of Medicine, São Paulo University, São Paulo, SP, Brazil. crispatroclo@yahoo.com.br
Cristiane Borges
CB
Patroclo
Angelina Maria Martins
AM
Lino
Paulo Eurípides
PE
Marchiori
Mário Wilson Iervolino
MW
Brotto
Maria Teresa Alves
MT
Hirata
D044466:Asian People; D001706:Biopsy; D001938:Brazil; D004576:Electromyography; D015417:Hereditary Sensory and Motor Neuropathy / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D035781:Siblings; D013497:Sural Nerve / Q000473:pathology*