Autosomal dominant late adult spinal muscular atrophy, type finkel

✍ Scribed by Richieri-Costa, A. ;Rogatko, A. ;Levisky, R. ;Finkel, N. ;Frota-Pessoa, O. ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1981
• Tongue: English
• Weight: 518 KB
• Volume: 9
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320090206

✦ Synopsis

Abstract

We describe clinical and genetic data from the study of two families with 80 members affected with the autosomal dominant, slowly progressive spinal muscular atrophy of late onset (average 48.8 years), first described by Finkel in 1962. Electromyography and muscle biopsy of a number of patients confirmed the neurogenic nature of the condition. Unusual findings in this disorder were cramps, spontaneous fits of suffocation, and symptomatic myotonia. Other manifestations are slow loss of muscle strength and progressive proximal atrophy, which starts in the lower limbs and progresses to the upper limbs; hypoactive or absent tendinous reflexes; and generalized fasciculations. Sensory and cranial nerve function is unimpaired. Probabilities for genetic counseling are evaluated by means of a method adequate to the late‐onset nature of the condition.