SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

Background: The SQSTM1 gene encodes p62, a major pathologic protein involved in neurodegeneration.

Objective: To examine whether SQSTM1 mutations contribute to familial and sporadic amyotrophic lateral sclerosis (ALS).

Design: Case-control study.

Myotonic dystrophy type 1 (DM1) presenting with laryngeal stridor and vocal fold paresis.

Myotonic dystrophy type 1 (DM1) is the most common inherited muscle disorder and may present in numerous ways due to characteristic multisystem involvement. We report a 47-year-old man who presented with an 8-year history of slowly progressive dyspnea and episodic stridor. The laryngeal paresis was documented with videostroboscopy and laryngeal electromyography, and treated with tracheostomy and antimyotonia agents.