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Introduction: Amyloid myopathy is a rare presentation of systemic amyloidosis. Amyloid myopathy can be initially misdiagnosed as sporadic inclusion body myositis (IBM). Methods: We report 4 cases of amyloid myopathy clinically mimicking inclusion body myositis and initially thought to be phenotypically IBM by neuromuscular experts. Results: Case 1 is an 81-year-old woman who presented with distal arm and proximal leg asymmetric weakness (myopathy pattern 4). Case 2 is a 76-year-old man with primary systemic amyloidosis who presented with myopathy pattern 4 and progressive dysphagia for four years. Case 3 is an 82-year-old man with progressive myopathy pattern 4 weakness and swallowing difficulty. Case 4 is a 62-year-old man with progressive bilateral finger flexor weakness. Muscle biopsies in all 4 cases showed perivascular amyloid deposits Discussion: Amyloid myopathy may be clinically indistinguishable from IBM. Muscle biopsy is of critical importance in the evaluation of patients suspected to have IBM.

Introduction: Diagnostic criteria for CIDP have been proven useful for clinical trials. However, use of these criteria in clinics has been limited by time constraints and unknown usefulness in predicting outcomes. Methods: A retrospective chart review of CIDP patients at the University of Kansas seen between 2008 and 2014 was performed. We determined the diagnostic criteria fulfilled by each patient and assessed treatment responses. A positive response was defined by improvement sensory or motor examination as determined by a neuromuscular physician.Results: There were 38 total patients included in the study. The response rate to IVIG in patients who fulfilled EFNS/PNS criteria was 20/22 (90.1%). Among patients who fulfilled AAN criteria, 8/9 (88.9%) responded positively to IVIG. Slightly lower response rates were seen in patients fulfilling INCAT criteria and Saperstein criteria at 10/15 (66.7%) and 12/17 (70.6%), respectively.Discussion: EFNS/PNS and AAN criteria can similarly predict IVIG treatment response.

Introduction. Methotrexate (MTX) is an immunosuppressive and anti-inflammatory drug used to treat rheumatoid arthritis (RA) and other autoimmune conditions. MTX is transported into cells, where glutamate moieties are added and is retained as methotrexate polyglutamates (MTXPGs). In the RA literature, it has been reported that the degree of polyglutamation correlates with the anti-inflammatory effect of MTX in RA. There are no prior studies evaluating the relationship between MTXPGs and myasthenia gravis (MG) outcome measures. The objective of this study was to assess the correlation between methotrexate (MTX) polyglutamates (MTXPGs) with Myasthenia Gravis (MG) outcome measures. Methods.xAn analysis was done of blood drawn from patients enrolled in the 12-month randomized, placebo-controlled study of MTX in MG study. Red blood cell MTXPGs were measured via ultraperformance liquid chromatography and tandem mass spectrometry. MTXPG was correlated to MG outcome measures using Spearman Correlation Coefficient. A two-group t-test was used to determine the difference in MTXPG based on clinical outcome responder definitions. Results. Twenty-one polyglutamate samples were analyzed of subjects on MTX while eight samples were analyzed from subjects on placebo. Pentaglutamate had the strongest correlation with the MG-ADL (0.99), while tetraglutamate had the strongest correlation with the QMG (0.54). Triglutamate had the strongest correlation with MGC (0.76). Conclusion. There were variable correlations between MTXPG1-5 and MG outcomes (rho range: 0.08 to 0.99). There are strong correlations between MTXPG and the MG-ADL, QMG, and MGC. Long chain methotrexate polyglutamates correlate better with MG outcomes.

Background. Neuronal Ceroid Lipofuscinosis, or Batten disease, is a neurodegenerative disorder that results in seizures, vision loss, vegetative state, and premature death. This project aims to understand the value of disease organizations in the management of Batten disease progression. Methods. Seven semi-structured interviews with caregivers of children with Batten disease were conducted at a national family conference. Also, five semi-structured telephone interviews with disease organizations were conducted, two of which were Batten disease specific. Results. Most caregiver participants reported difficulties in getting a diagnosis. All participants reported significant benefit from involvement in the Batten Disease Support and Research Association (BDSRA) and associated family conference. Some of the most challenging aspects of care centered around a lack of in-home aid, medical equipment, and the education system. The disease advocacy organizations included Rare KC, the National Organization for Rare Disorders (NORD), Global Genes, Noah’s Hope, and Taylor’s Tale. Disease organizations encourage rare disease families to thrive by providing the bridge that connects patients, physicians, and researchers. A central organization implements an avenue for individuals to share information and meet people in the rare disease community. Conclusions. The participants provided clear examples of the benefits families received from being involved in a rare disease organization.

Background: Isolated bulbar amyotrophic lateral sclerosis (IBALS) is a regional variant of amyotrophic lateral sclerosis (ALS) with weakness restricted to the bulbar muscles for at least 2 years, and slower progression than generalized ALS. Bulbar-onset generalized ALS, by contrast, typically has a more rapid progression than limb-onset ALS.Objective: To characterize patients with IBALS and compare them to patients with isolated bulbar disease at presentation who progress to generalized ALS.Methods: We performed a retrospective chart review of patients seen in our ALS specialty clinic at the University of Kansas Medical Center between 2001-2011. Results: Of 543 patients seen in the ALS clinic, 150 presented with bulbar symptoms at disease onset: 28 (18.7%) had bulbar signs and no evidence of extremity involvement on exam or electrodiagnostic testing at their initial visit; and 14 (9.3%) had weakness restricted to the bulbar muscles after 2 years of follow up (IBALS). IBALS patients were 57.1% male, with a mean age of symptom onset of 60.8 years (range 39-77 years). The mean disease duration was 3.1 years (range of 2-8 years), with 50% mortality at a mean follow up of 3.5 years. Minimal denervation changes were seen in at least one limb in 6 subjects (42.9%). Other clinical features included: 4 subjects (28.6%) had cognitive impairment, 4 (28.6%) had pseudo-bulbar affect, and 5 subjects (35.7%) had impaired eye movements on smooth pursuit.Conclusion: Isolatred bulbar ALS IBALS is an identifiable restricted regional ALS pattern if there is no clinical limb weakness 2 years after symptom onset. It may have a slower progression from typical ALS. The biologic factors that account for the IBALS restricted pattern are unknown.

Isolated bilateral ptosis as an initial sign of Guillain-Barré Syndrome (GBS) with subsequent limb paralysis or paresis has been reported. However, to our knowledge, bilateral ptosis with subsequent limb myokymia but without ophthalmoplegia, facial or extremity weakness has not been observed. Our patient developed severe bilateral ptosis over several days. There was no facial or extremity weakness although limb myokymia was seen. Laboratory studies excluded common causes of ptosis and were suggestive of GBS. We believe our patient extends the clinical spectrum of GBS, and that binocular ptosis represents a mild regional variant of this neuropathy.

Objective. Although riluzole and edaravone are FDA-approved for Amyotrophic Lateral Sclerosis (ALS), these drugs have negligible effect on disease progression and survival. Recent studies reporting neuroprotection from sub-anesthetic doses of ketamine support testing this drug in this rapidly progressing and fatal disease. Methods. We administered ketamine at 0, 10, and 30 mg/kg to SOD1-G93A mice 5 days/week beginning at 90 days of age. We measured body weight, grip strength, and survival in this model of ALS. Results. Although ketamine did not influence disease-related loss of body weight, it did delay grip strength declines in the 30 mg/kg group. Ketamine also prolonged survival in the 30 mg/kg group and dose-dependently increased the latency between 20% loss of body weight and death. Conclusions. These results support further testing of ketamine in preclinical models of ALS to determine optimal dosing. They also support testing in the clinic given the limited efficacy of current ALS treatments and given FDA approval of ketamine for other indications like treatment-resistant depression.

Since December 2019, COVID 19 pandemic has devastated communities across the world. As number of patients recovered from COVID 19 continue to rise, question of acquired immunity versus chances of re-infection becomes critical to understand the future spread of infection. Here, we present a case of a patient previously recovered from COVID-19, develops new symptoms concerning for possible re-infection with positive reverse transcriptase-polymerase chain reaction (RT-PCR) after few months of initial infection.

Background: Motor neuron disorders are rare, progressive neurodegenerative diseases which affect multiple domains of motor function. The ability to assess function from home using an electronic medical record (EMR) would facilitate pragmatic studies. Objective: To develop a Patient Activity of Daily Living scale for Amyotrophic Lateral Sclerosis and other motor neuron disorders (PADL-ALS) to support large pragmatic trials. Methods: The Greater Plains Collaborative Clinical Data Research Network (GPC) developed and tested the feasibility of using the PADL-ALS. We convened patient and caregiver focus groups and in-person meetings to recommend changes to the ALS Functional Rating Scale-Revised (ALSFRS-R), which clarified language and added questions about pseudobulbar affect, pain, and faith. Feasibility was determined by conducting a survey of participants identified using EMR-computable phenotypes and returned via patient-preferred modalities. Results: Surveys were distributed to 1079 participants at nine GPC health systems. The survey response rate was 44.4% (range 12.9-57.66%): male to female ratio 1.56; 84% self-identified as a patient with ALS. Patient respondents used computers or tablets more frequently than caregivers responding on their behalf. The PADL-ALS correlated to clinic-performed ALSFRS-R within 4 weeks of survey completion (n=33, rho=0.93, Kansas only). The pseudobulbar affect question correlated to functional motor burden. Over 80% agreed to be contacted for future research opportunities. Conclusion: We demonstrated the feasibility of determining functional burden with the PADL-ALS using an EMR-computable phenotype. Future directions include implementing the PADL-ALS to answer pragmatic questions about ALS care.