Oculopharyngeal Muscular Dystrophy, an Often Misdiagnosed Neuromuscular Disorder: A Southern California Experience Objective: Oculopharyngeal muscular dystrophy (OPMD) is a rare neuromuscular disorder characterized by late-onset development of bilateral eyelid ptosis, ophthalmoparesis and dysphagia with further progression to proximal limb muscle weakness that is an under recognized condition. The mode of inheritance is usually autosomal dominant, but a recessive form has been reported. OPMD is caused by a short expansion of the alanine repeat (GCN trinucleotide) in the poly(adenylate)-binding protein nuclear1 (PABPN1) gene. Methods: We performed a retrospective review of undiagnosed cases that initially presented with ptosis, diplopia, dysphagia, muscle weakness, muscular dystrophy and/or myasthenia gravis from 2000 to 2015 at two institutions in Southern California. Results: Twenty-five patients were identified to have OPMD with genetic confirmation. Conclusions: Even though a rare condition, the prevalence is disproportionally frequent in certain ethnic groups and in certain regions; thus, we report our experience of OPMD patients in Southern California.

Intraepidermal Nerve Fiber Density in Postmortem Skin: A Novel Approach Objective: To determine the feasibility of examining intraepidermal nerve fiber density (IENFD) in postmortem skin. Methods: From 12 subjects, 3-mm skin punch biopsies were collected 1–4 days postmortem from the proximal leg and distal leg, with a mean (range) interval from the death of 37 (15–91) hours. Causes of death varied broadly, including hepatocellular carcinoma, chronic lymphocytic leukemia, generalized atherosclerosis, progressive supranuclear palsy, Parkinson disease, emphysema, and obesity. The mean (range) number of sections evaluated from each biopsy was 5.08 (2–6) from the proximal leg and 5.92 (5–6) from the distal leg. Sections were stained with PGP 9.5 for blinded counting using bright field microscopy. Qualitative and quantitative assessment of feasibility included a comparison of fiber staining with that in healthy subjects and mean IENFD in postmortem samples. Interobserver reliability was assessed among 3 blinded raters by calculating intraclass correlation coefficients and percentage variability of IENFD in at least 4 sections from biopsies in 5 healthy subjects. Results: Intraobserver and interobserver correlation coefficients of blinded IENFD counts undertaken by 4 authors were consistently >0.80, and the coefficient of variation was ≤10%. The quality of staining in postmortem samples was comparable with that in healthy subjects and was not substantially affected by time from death to specimen collection of up to nearly 4 days. Mean (range) IENFD from postmortem samples in the proximal and distal leg was 2.73 (0–7.65) and 1.93 (0–4.91) fibers/mm of skin, respectively. Two of 3 patients who had received chemotherapy during life showed a nearly complete absence of intraepidermal nerve fibers. Conclusions: IENFD measurement in postmortem skin is feasible and may be used to study the epidemiology of SFN.

Evaluation of Quality of Life in Patients With Chronic Inflammatory Demyelinating Polyneuropathy in Iran Objectives: In addition to the physical disability in chronic inflammatory demyelinating polyneuropathy (CIDP), various aspects of quality of life (QoL) are affected by the disease. Our goal was to evaluate the QoL in Iranian patients with CIDP and to study the association of clinical and demographic factors with QoL parameters. Methods: Twenty-six Iranian patients with CIDP were asked to complete a standardized Persian version of SF-36, and the association of demographic and functional parameters with QoL parameters was assessed. Results: Sex, living place, and income had no significant effect on QoL. Mean physical composite score was 37.7 ± 9.4, and mean mental composite score was 37.2 ± 15.2 that was lower than similar studies. There was a positive correlation between QoL and muscle strength of different muscle groups [hand (r = 0.41, P = 0.04); hip (r = 0.44, P = 0.02); and foot (r = 0.41, P = 0.04); total manual muscle testing (r = 0.46, P = 0.02)] and a significant negative correlation between the duration of illness and mean physical composite score (r = −0.61, P = 0.00). Conclusions: Our patients achieved low scores in both the physical and mental aspects of QoL compared with other studies. We found a significant correlation between the physical domain of the SF-36 score and muscle strength of the hand, hip, and foot muscle group and with total manual muscle testing, suggesting that physical disability is the most crucial factor affecting QoL. Also, there was a significant negative association between the duration of the disease and the physical domain.

What Is in the Literature This installment of what is in the literature is on amyotrophic lateral sclerosis (ALS). The pathophysiology of ALS remains open and the role of genes, a foothold into pathophysiology, but there are >22 genes identified, and the mechanisms are not known for any. Despite the lack of a firm understanding of pathophysiology, drug trials continue based on possible mechanisms, but no new drugs beyond riluzole and edaravone have been positive in phase 3 trials. There are a number of formal stem cell trials underway, and the results of a phase 2 trial are described. Major efforts to make trials more sensitive are being considered. There are a number of articles with helpful and practical findings for the diagnosis and management of ALS.

Significance of Asymptomatic Hyper Creatine-Kinase Emia Objectives: Whether asymptomatic hyper-CKemia (AHCE) should prompt a thorough work-up for muscle disease or not is controversially discussed. This review aims at summarizing and discussing recent findings concerning the cause, frequency, evolution, and work-up of conditions manifesting as AHCE and normal or abnormal electromyography (EMG) respectively muscle biopsy. Methods: Systematic PubMed search. Results: There are numerous primary (hereditary) and acquired myopathies that manifest with permanent, recurrent, or temporary AHCE with/without myopathic EMG or muscle biopsy. AHCE particularly occurs at onset of these conditions, which include dystrophinopathies, myotilinopathies, calpainopathy, caveolinopathy, dysferlinopathy, central core disease, multicore disease, desminopathy, MD1, MD2, hypoPP, malignant hyperthermia susceptibility, Pompe disease, McArdle disease, myoadenylate deaminase-deficiency, CPT2-deficiency, mitochondrial disorders, or myopathy with tubular aggregates. Most likely, other primary myopathies manifest with AHCE as well, without having been reported. Patients with AHCE should be taken seriously and repeated CK determination must be conducted. If hyper-CKemia is persisting or recurrent, these patients should undergo an EMG and eventually muscle biopsy. If noninformative, genetic work-up by a panel or whole exome sequencing should be initiated, irrespective of the family history. Patients with AHCE should avoid excessive exercise, require sufficient hydration, require counseling with regard to the risk of malignant hyperthermia, and should inform anesthesiologists and surgeons about their condition before elective surgery. Conclusions: Recurrent AHCE should be taken seriously and managed with conventional work-up. If noninformative, genetic work-up should follow irrespective of the family history.

A Case of Triple-Negative Myasthenia Gravis Lambert-Eaton Overlap Syndrome With Negative Agrin and LRP-4 Antibodies A case of triple-negative myasthenia gravis Lambert-Eaton overlap syndrome with negative Agrin and LRP-4 antibodies. Myasthenia gravis (MG) is an autoimmune disorder that shares similar features with Lambert-Eaton myasthenic syndrome. The combined clinical and electrophysiological findings of MG and Lambert-Eaton myasthenic syndrome have been reported, these cases represent the so-called “myasthenia gravis Lambert-Eaton overlap syndrome” (MLOS). A total of 55 MLOS cases have been identified, 13 cases were reported before the acetylcholine receptor (AChR) antibody (ab) testing era, 14 during the AChR-ab era, 26 during the voltage-gated calcium channel (VGCC)-ab era, and 2 cases have been reported during the muscle-specific kinase (MuSK)-ab era, of these; only 1 patient tested negative for all 3 antibodies. New immunological markers have been identified in the study of MG [Agrin and the low-density lipopro-tein receptor-related protein 4 (LRP-4)]. We present a patient with MLOS who tested negative for all 5 (AChR, MuSK, VGCC, Agrin, and LRP-4) serologic markers.

Distal Cervical Spondylotic Amyotrophy: Case Reports Demonstrating Clinical/Imaging Segmental Discrepancy Monomelic pure motor amyotrophy may seem to be an ominous syndrome as it leads to consideration of motor neuron disease. We present a series of 3 very similar cases where unilateral pure distal lower motor neuron paresis and atrophy was limited to the C8-T1 myotomes, without long-tract signs. Electrodiagnostic studies were in keeping with a restricted anterior horn cell disorder. Neuroimaging showed very focal spinal cord compression at the C6-7 level. Two patients underwent surgical decompression. All 3 patients were improved or stable at follow-up. Distal spondylotic amyotrophy is characterized by equal involvement of thenar and hypothenar muscles, in contrast to amyotrophic lateral sclerosis or Hirayama disease. We discuss the striking 2-level discrepancy between imaging and clinical localization. Proposed explanations are arterial or venous compromise caudal to the site of compression. Anatomical variation such as a prefixed brachial plexus is unlikely. A similar imaging/clinical discrepancy has been documented in Hirayama disease and spondylotic myelopathy.

Monozygotic Twins Discordant for Kennedy Disease: A Case Report Spinal and bulbar muscular atrophy or Kennedy disease (KD) is an X-linked recessive disorder caused by a pathogenic CAG expansion in the first exon of the androgen receptor. Proximal muscle atrophy, weakness, contraction fasciculations, bulbar involvement, and sensory disturbances are part of the clinical picture of KD. We report the unusual genetic and phenotypic expression in 2 monozygotic twins. Genetic analysis has shown abnormal expansion of CAG repeat in the first exon of the androgen receptor gene on chromosome X different between the twin brothers (44, respectively, 46) but with large phenotypical differences including onset age, evolution, and clinical features. Disease began at age 31 for the first brother, respectively, and at 56 years for the second one and consisted of muscle wasting and progressive impairment of walking. In addition, the second brother did not manifest bulbar involvement 3 years after clinical onset and has more sensory features. Besides classical EMG testing, we evaluate sensory participation in spinal and bulbar muscular atrophy with sudoscan device and confirmed the sensory deficit. We discussed epigenetic factors potentially involved in KD that could play a role in the phenotypical differences. To the best of our knowledge, this is the first case describing CAG trinucleotide repeats in monozygotic twins and also the first sudoscan diagnostic of sensory disturbances in Kennedy syndrome.

Charcot–Marie–Tooth Disease Type 4J and Multiple Sclerosis No abstract available

CSF Protein Level and Short-Term Prognosis in Guillain–Barré Syndrome No abstract available