The National ALS Registry: a recruitment tool for research.

Introduction: Subject recruitment is critical for understanding fatal diseases like ALS, however linking patients with researchers can be challenging. The U.S.

Parental attitudes toward newborn screening for Duchenne/Becker muscular dystrophy and spinal muscular atrophy.

Introduction: Disease inclusion in the newborn screening (NBS) panel should consider the opinions of those most affected by the outcome of screening. We assessed the level and factors that affect parent attitudes regarding NBS panel inclusion of Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and spinal muscular atrophy (SMA).

Methods: The attitudes toward NBS for DMD, BMD, and SMA were surveyed and compared for 2 categories of parents, those with children affected with DMD, BMD, or SMA and expectant parents unselected for known family medical history.

Facial diplegia, pharyngeal paralysis, and ophthalmoplegia after a timber rattlesnake envenomation.

The timber rattlesnake, also known as Crotalus horridus, is well known to cause significant injury from toxins stored within its venom. During envenomation, toxic systemic effects immediately begin to cause damage to many organ systems including cardiovascular, hematologic, musculoskeletal, respiratory, and neurologic. One defining characteristic of the timber rattlesnake is a specific neurotoxin called crotoxin, or the "canebrake toxin," which is a potent β-neurotoxin affecting presynaptic nerves that can cause paralysis by inhibiting appropriate neuromuscular transmission.

Validity of hospital discharge data for identifying cases of amyotrophic lateral sclerosis.

Inpatient hospital encounters and emergency department visits were examined to identify cases of amyotrophic lateral sclerosis (ALS).The ninth edition of the International Classification of Disease, clinical modification (ICD-9-CM) for ALS was confirmed for ALS was confirmed in 93% of inpatient discharges and in 91% of emergency department visits by the diagnostic standard (chart review). Yearly prevalence rates ranged from 2.

Accuracy and usefulness of ICD-10 death certificate coding for the identification of patients with ALS: results from the South Carolina ALS Surveillance Pilot Project.

The purpose if this study was to investigate the positive predictive value and sensitivity of the ICD-10 code G12.2, which is used to identify patients who have possibly died from ALS. All patients with a motor neuron disease diagnosis code during the study period (2001-2005) were identified using administrative data.

Neurological deficits during treatment with tumor necrosis factor-alpha antagonists.

Introduction: Neurological deficits that occur during treatment with tumor necrosis factor (TNF)-α antagonists are rare, and their clinical features have not been fully elucidated.

Methods: Retrospective review of medical records of 9 patients who were given TNF-α antagonists, subsequently developed neurological deficits and were cared for at the Medical University of South Carolina between January 2002 and May 2010. Adverse drug reaction probability scale was used for the assessment of their causal connection.

Voltage gated potassium channel antibodies in amyotrophic lateral sclerosis.

Although overlap exists between the clinical manifestations in patients with acquired peripheral nerve hyperexcitibility and amyotrophic lateral sclerosis (ALS), the presence of VGKC antibodies has not been associated with the development or clinical manifestations of motor neuron disease. We present the finding of elevated potassium channel antibodies in a cohort of patients with ALS and demonstrate a higher number of abnormal titer levels and higher mean titer levels in ALS patients compared to a cohort of patients with peripheral nervous system disorders. These results suggest the possibility of a subset of ALS patients where autoimmunity could play a role in disease development and progression.

Neurosarcoidosis.

Neurosarcoidosis is an uncommon disorder and requires a careful clinical evaluation to reach a diagnosis. Generally, patients with peripheral symptoms, which include paresthesias, muscle weakness, and stocking glove deficits, have a better outcome compared with those with central nervous system involvement. Patients with mass lesions or hydrocephalus tend to have more relapses and are often more resistant to routine therapy.

Single-fiber electromyography during menstrual exacerbation and ovulatory suppression in MuSK antibody-positive myasthenia gravis.

We report a patient with muscle-specific tyrosine kinase (MuSK) antibody-positive myasthenia gravis who experienced worsening of myasthenic weakness associated with alterations in estrogen and progesterone levels during the administration of oral contraceptive therapy. Single-fiber electromyography was performed to document changes in neuromuscular transmission associated with the clinical exacerbation and subsequent resolution of the menstrual exacerbation and clinical improvement experienced with continuous monophasic oral contraceptive therapy. The potential long-term benefit of ovulatory suppression in MuSK antibody-positive myasthenia gravis is discussed.

Peripheral neuropathy in genetic mitochondrial diseases.

Peripheral neuropathy is an underrecognized but common occurrence in genetic mitochondrial disorders. To gain insight into the frequency and clinical presentation of this complication, nerve conduction studies were performed on 43 subjects with congenital lactic acidosis enrolled in a controlled clinical trial of oral dichloroacetate. Median and peroneal motor conduction studies and median and sural sensory conduction studies were performed on each patient.

Juvenile-onset Leigh syndrome with an acute polyneuropathy at presentation.

Subacute necrotizing encephalomyelopathy or Leigh syndrome can be associated with a polyneuropathy. By far, the most commonly encountered neuropathy is a chronic neuropathy with features of demyelination, which can be the presenting manifestation of Leigh syndrome. On rare occasions, the neuropathy encountered can represent a more acute process.