Intramuscular interstitial amyloid deposition does not impact anoctaminopathy-5 phenotype.

INTRODUCTION: Recessive mutations in the anoctamin-5-encoding gene (ANO5) cause muscular dystrophy of various phenotypes. Intramuscular interstitial amyloid deposits were detected in a few patients with anoctaminopathy-5, some with cardiac involvement. The frequency of amyloid deposition in anoctaminopathy-5 and its impact on phenotype are unknown. METHODS: We retrospectively identified patients with genetically proven anoctaminopathy-5 who had undergone muscle biopsy and reviewed their clinical and laboratory data. RESULTS: Eight of 15 patients with anoctaminopathy-5 had intramuscular interstitial amyloid deposits. The median age at onset of weakness was 40 and 45 years in the amyloidosis and nonamyloidosis groups, respectively. Mutations occurred throughout the entire gene in the amyloidosis group. Atrial arrhythmia was noted in 4 patients with amyloidosis and in 4 patients without amyloidosis. The latter group also had premature ventricular contractions. One nonamyloidosis patient had septal hypokinesia. DISCUSSION: Intramuscular amyloidosis occurred in 53% of patients with anoctaminopathy-5 who underwent muscle biopsy and had no impact on the phenotype. Muscle Nerve 59:133-137, 2019.

Prevalence of autonomic dysfunction in hospitalized patients with Guillain-Barré syndrome.

INTRODUCTION: There is a paucity of data regarding autonomic dysfunction (AD) in Guillain-Barré Syndrome (GBS). Concern exists regarding inpatient mortality risk in GBS. We sought to identify the prevalence of AD in GBS inpatients. METHODS: We used the Health Cost and Utilization Project Nationwide Inpatient Sample (NIS). GBS hospitalizations were identified by International Classification of Diseases, Ninth Revision, Clinical Modification code-357.0. Non-GBS hospitalizations were matched to these cases 4:1 by age and gender. RESULTS: We identified 2,587 GBS patients and a control population of 10,348 patients during 2010-2011. The most common manifestations of AD were: diarrhea/constipation (15.5%), hyponatremia (14.9%), syndrome of inappropriate antidiuretic hormone secretion (SIADH) (4.8%), bradycardia (4.7%), and urinary retention (3.9%). GBS patients had higher rates of reversible cardiomyopathy, syncope, tachycardia, and Horner syndrome (P < 0.0001). CONCLUSIONS: AD most commonly manifests as diarrhea/constipation, SIADH/hyponatremia, and cardiac dysfunction. This report can help increase awareness of AD in GBS and aid in early identification, treatment, and mortality reduction. Muscle Nerve 56: 331-333, 2017.

Botulinum toxin treatment in parkinsonism.

Botulinum toxin (BoNT) was approved by the United States Food and Drug Administration (FDA) in 1989 for facial movement disorders and strabismus, but since that time its indications have been expanding beyond neurologic and ophthalmologic disorders. This article is a narrative review of the therapeutic use of BoNT in tremors, dystonia, sialorrhea, bladder and other autonomic symptoms, levodopa-induced dyskinesia and other problems occuring in the setting of parkinsonism. Though FDA approval is lacking for some of these indications, expert experiences have shown that BoNT is often beneficial in this group of patients.

Use of botulinum toxin in the management of dystonia in Parkinson's disease.

Botulinum toxin is one of the most potent neurotoxins, but when injected into an overactive muscle, it can transiently alleviate an involuntary movement, such as dystonia. The primary aim of this article is to provide a comprehensive review of the various forms of dystonia observed in patients with Parkinson's disease who can benefit from a therapeutic trial of botulinum toxin. Although most of these indications are not supported by randomized controlled clinical trials and, therefore, not approved by the Food and Drug Administration, there are many open-label trials supporting a large body of empirical experience testifying to the benefits of botulinum toxin treatment in these conditions.

Botulinum Toxin in Movement Disorders: An Update.

Since its initial approval in 1989 by the US Food and Drug Administration for the treatment of blepharospasm and other facial spasms, botulinum toxin (BoNT) has evolved into a therapeutic modality for a variety of neurological and non-neurological disorders. With respect to neurologic movement disorders, BoNT has been reported to be effective for the treatment of dystonia, bruxism, tremors, tics, myoclonus, restless legs syndrome, tardive dyskinesia, and a variety of symptoms associated with Parkinson's disease. More recently, research with BoNT has expanded beyond its use as a powerful muscle relaxant and a peripherally active drug to its potential central nervous system applications in the treatment of neurodegenerative disorders. Although BoNT is the most potent biologic toxin, when it is administered by knowledgeable and experienced clinicians, it is one of the safest therapeutic agents in clinical use. The primary aim of this article is to provide an update on recent advances in BoNT research with a focus on novel applications in the treatment of movement disorders. This comprehensive review of the literature provides a critical review of evidence-based clinical trials and highlights recent innovative pilot studies.