Familial Spinal Muscular Atrophy with Additional Features : A family report

Abstract

Abstract

There is considerable variation in the types of spinal muscular atrophies.  SMA withadditional features are unusual.  There have been reports in many countries with specific cases describing patients with these variations.  Literary reviews literature in Thailand have never reported such cases.  This report is about a single Thai family of members.  Four members have been affected with SMA with additional features of ataxic, rtinitis pigmentosa and optic atrophy.