This article reports a case of ataxia - telangectasia showing uncommon skeletal abnormalities (dorsal scoliosis, pes cavus) and a progressive distal amyotrophy with a pattern of involvement quite similar to the one found in Charcot-Marie.Tooth disease. The association of skeletal anomalies usually found in Friedreich's ataxia, and of neurogenic muscular atrophy, with a typical picture of ataxia - telangectasia, supports the opinion of those authors who classify the syndrome among the hereditary, spinocerebellar degenerations rather than among the phakomatosis.

Ataxia-telangiectasia: apropos of a case with pes cavus and distal neural amyotrophy

GRANIERI, Enrico Gavino Giuseppe;DE BASTIANI, Pierluigi;TOLA, Maria Rosaria
1977

Abstract

This article reports a case of ataxia - telangectasia showing uncommon skeletal abnormalities (dorsal scoliosis, pes cavus) and a progressive distal amyotrophy with a pattern of involvement quite similar to the one found in Charcot-Marie.Tooth disease. The association of skeletal anomalies usually found in Friedreich's ataxia, and of neurogenic muscular atrophy, with a typical picture of ataxia - telangectasia, supports the opinion of those authors who classify the syndrome among the hereditary, spinocerebellar degenerations rather than among the phakomatosis.
1977
Rosati, G.; Granieri, Enrico Gavino Giuseppe; Aiello, I.; Pinna, L.; DE BASTIANI, Pierluigi; Tola, Maria Rosaria
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11392/528051
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