Utility of the ALSFRS-R for predicting ALS and comorbid disease neuropathology: The Veterans Affairs Biorepository Brain Bank.

INTRODUCTION/AIMS: The amyotrophic lateral sclerosis (ALS) functional rating scale-revised (ALSFRS-R) is commonly used to track ALS disease progression; however, there are gaps in the literature regarding the extent to which the ALSFRS-R relates to underlying central nervous system (CNS) pathology. The current study explored the association between ALSFRS-R (total and subdomain) scores and postmortem neuropathology (both ALS-specific and comorbid disease). METHODS: Within our sample of 93 military veterans with autopsy-confirmed ALS, we utilized hierarchical cluster analysis (HCA) to identify discrete profiles of motor dysfunction based on ALSFRS-R subdomain scores. We examined whether emergent clusters were associated with neuropathology. Separate analyses of variance and covariance with post-hoc comparisons were performed to examine relevant cluster differences. RESULTS: Analyses revealed significant correlations between ALSFRS-R total and subdomain scores with some, but not all, neuropathological variables. The HCA illustrated three groups: Cluster 1-predominantly diffuse functional impairment; Cluster 2-spared respiratory/bulbar and impaired motor function; and Cluster 3-spared bulbar and impaired respiratory, and fine and gross motor function. Individuals in Cluster 1 (and to a lesser degree, Cluster 3) exhibited greater accumulation of ALS-specific neuropathology and less comorbid neuropathology than those in Cluster 2. DISCUSSION: These results suggest that discrete patterns of motor dysfunction based on ALSFRS-R subdomain scores are related to postmortem neuropathology. Findings support use of ALSFRS-R subdomain scores to capture the heterogeneity of clinical presentation and disease progression in ALS, and may assist researchers in identifying endophenotypes for separate assessment in clinical trials.

Myotonic Disorders and Channelopathies.

Myotonic dystrophies and channelopathies are rare but important causes of muscle diseases which may present with myotonia, episodic attacks of weakness, fixed muscle weakness, and atrophy or their combination. Here, the authors provide an overview of these disorders and describe their clinical and pathophysiological features, diagnostic methods, and management.

Postpartum spinal cord, root, plexus and peripheral nerve injuries involving the lower extremities: a practical approach.

Neurological complications after labor and delivery are most often caused by compressive trauma related to childbirth and rarely related to neuraxial anesthesia/analgesia. However, it is important for anesthesiologists to be able to recognize the common manifestations of these neuropathies in order to distinguish them from more ominous causes of neurologic disease. In this article, we review the anatomy and etiology of postpartum thoracolumbar spinal cord, lumbar nerve roots, plexus, and lower extremity peripheral nerve injuries. We will focus on a practical approach to their diagnosis, management, and treatment. Cases will be used to illustrate diagnosis and management.

Motor Neuron Disease: Pathophysiology, Diagnosis, and Management.

Patients with motor neuron diseases may present to primary care clinic or may be initially encountered in the inpatient setting. Timely diagnosis of these conditions is a key factor in early intervention and therapy, and accuracy of diagnosis is of extreme importance, in particular for amyotrophic lateral sclerosis with its poor prognosis. The aim of this review article is to provide a clinical and diagnostic framework for the diagnosis and evaluation of motor neuron disease for primary care physicians.

Median Nerve Ultrasonography Measurements Correlate With Electrodiagnostic Carpal Tunnel Syndrome Severity.

INTRODUCTION: The purpose of this study was to assess whether median nerve ultrasonography (US) measurements correlate with the severity scale of electrodiagnostic studies (EDS) of carpal tunnel syndrome (CTS). METHODS: A retrospective review was conducted of patients aged ≥18 years who underwent both median nerve US and EDS. US measurements of the median nerve cross-sectional area at the distal wrist crease and forearm were used to calculate the median nerve wrist-to-forearm ratio. EDS severity was classified according to guidelines from the American Association of Electrodiagnostic Medicine. RESULTS: A total of 112 wrists (n = 112) in 78 consecutive patients with a mean age of 59 (range, 26 to 88) years were included. Increased cross-sectional area at the distal wrist crease and wrist-to-forearm ratio were significantly correlated with increased EDS severity (P < 0.0001). DISCUSSION: Median nerve US measurements not only distinguished between normal and abnormal EDS but also correlated with the category of EDS severity. LEVEL OF EVIDENCE: Diagnostic III.

An Approach to Myopathy for the Primary Care Clinician.

Patients with muscle weakness are frequently encountered in the primary care clinic; however, the identification of an underlying disorder of muscle can pose a significant challenge. The aim of this review article is to provide a clinical and diagnostic framework to aid the primary care clinician in the detection and evaluation of suspected myopathies.

Myotonic disorders: A review article.

The myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. The presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (MC), to severe disability with muscle weakness, cardiac conduction defects, and other systemic features as in myotonic dystrophy type I (DM1). In this review, we describe the clinical features and pathophysiology of the different myotonic disorders, their laboratory and electrophysiologic findings and briefly review the currently available treatments.