scholarly journals Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy

2016 ◽  
Vol 43 (3) ◽  
pp. 381-384 ◽  
Author(s):  
Mark A. Tarnopolsky ◽  
Erin Hatcher ◽  
Rachel Shupak
Keyword(s):  
Clinical Features ◽  
Age At Onset ◽  
Inflammatory Myopathy ◽  
Final Diagnosis ◽  
Creatine Kinase Activity ◽  
Inflammatory Myopathies ◽  
Muscle Involvement ◽  
Course Of Disease ◽  
Disease Modifying Agents ◽  
Muscle Biopsies

AbstractObjectives: Differentiating genetic myopathies from inflammatory myopathies can be challenging because of multiple overlapping clinical features. Examples are presented to highlight important clinical features that assist in the differentiation between the two. Methods: Clinical features including age at onset, history, pattern of weakness, serum creatine kinase activity, electromyography findings, and muscle biopsies are reported in six patients initially thought to have an inflammatory myopathy in whom the final diagnosis was a genetic myopathy. Results: All six patients met Bohan and Peter criteria for at least probable idiopathic polymyositis and were subsequently found to have a genetic myopathy (4 DYSF, RYR1, and GNE). The key distinguishing clinical were minimal to no response to immunosuppression and atypical involvement of distal muscles in the majority of cases. Conclusions: Patients diagnosed with inflammatory myopathies should be reevaluated for the possibility of a genetic myopathy if they fail to respond to a course of disease-modifying agents and/or there is atypical distal muscle involvement.

Histopathological features of the idiopathic inflammatory myopathies

2018 ◽  
Author(s):  
Marianne de Visser and Eleonora M.A. Aronica
Keyword(s):  
Inclusion Body ◽  
Muscle Biopsy ◽  
Inclusion Body Myositis ◽  
Inflammatory Myopathy ◽  
Adult Patients ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
Histopathological Features ◽  
Muscle Biopsies

In adult patients with presumed idipathic inflammatory myopathy (IIM) without a characteristic and diagnostic dermatomyositis rash, muscle biopsy is mandatory to confirm the IIM diagnosis and to exclude a myopathy which would not respond to glucocorticoids or other immunosuppressants, including inclusion body myositis. This chapter discusses when, where, and how to undertake muscle biopsies, when to repeat them, how to interpret their results, and how these relate to IIM subtypes and disease processes.

scholarly journals Association of extended myositis panel results, clinical features, and diagnoses: a single-center retrospective observational study

2021 ◽  
Author(s):  
Shamma Ahmad Al Nokhatha ◽  
Eman Alfares ◽  
Luke Corcoran ◽  
Niall Conlon ◽  
Richard Conway
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Clinical Utility ◽  
Clinical Symptoms ◽  
Final Diagnosis ◽  
Inflammatory Myopathies ◽  
Inclusion Criteria ◽  
Positive Group ◽  
Positive Results

AbstractMyositis-specific antibodies (MSA) and myositis-associated antibodies (MAA) are a feature of the idiopathic inflammatory myopathies (IIM), but are also seen in other rheumatic diseases, and in individuals with no clinical symptoms. The aim of this study was to assess the clinical utility of MSA and MAA and in particular the clinical relevance of weakly positive results. We included all patients at our institution who had at least one positive result on the Immunoblot EUROLINE myositis panel over a 6-year period (2015–2020). Associations with clinical features and final diagnosis were evaluated. Eighty-seven of 225 (39%) myositis panel tests met the inclusion criteria. There were 52 strong positives and 35 weak positives for one or more MSA/MAAs. Among the strong positive group, 15% (8/52) were diagnosed with IIM, 34.6% (18/52) with interstitial lung disease, 7.7% (4/52) with anti-synthetase syndrome, 25% (13/52) with connective tissue disease, and others accounted for 25% (13/52). In weak-positive cases, only 14% (5/35) had connective tissue disease and none had IIM. 60% (21/35) of weak-positive cases were not associated with a specific rheumatic disease. A significant number of positive myositis panel results, particularly weak positives, are not associated with IIM or CTD.

scholarly journals THU0365 INCREASED HSP90 IN MUSCLE TISSUE AND PLASMA ASSOCIATES WITH DISEASE ACTIVITY AND SKELETAL MUSCLE INVOLVEMENT IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 414.1-414
Author(s):  
H. Štorkánová ◽  
S. Oreska ◽  
M. Špiritović ◽  
B. Heřmánková ◽  
O. Kryštůfková ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Disease Activity ◽  
Inflammatory Cells ◽  
Healthy Controls ◽  
Inflammatory Myopathies ◽  
Muscle Enzymes ◽  
Muscle Involvement ◽  
Hsp90 Expression ◽  
Muscle Biopsies ◽  
Skeletal Muscle Involvement

Background:Heat shock proteins (Hsps) are chaperones playing important roles in skeletal muscle physiology, adaptation to exercise or stress, and activation of inflammatory cellsObjectives:The aim of our study was to assess Hsp90 expression in muscle biopsies and plasma of patients with idiopathic inflammatory myopathies (IIM) and to characterize its association with IIM-related features.Methods:Total of 277 patients with IIM (198 females, 79 males; mean age 54.8; disease duration 4.1 years; DM, 104/PM, 108/CADM, 31/IMNM, 25) and 157 healthy individuals (92 females, 65 males; mean age 47.0) were included in plasma analysis. Muscle biopsy samples (PM, DM, IMNM, myodystrophy, myasthenia gravis) were stained for Hsp90α (Thermo Fisher Scientific, USA) and Hsp90β (Abcam, UK). Plasma Hsp90 was measured by ELISA kit (eBioscience, Vienna, Austria). The cytokines/chemokines were analysed by using Bio-Plex ProTMhuman Cytokine 27-plex Assay (BIO-RAD, California, USA.Data are presented as median(IQR).Results:In muscle biopsies, Hsp90 expression of both subunits (alpha and beta) was higher in IIM than in controls. Increased Hsp90 was detected in perifascicular degenerating and regenerating fibers, inflammatory cells (DM, PM), and necrotic and regenerating fibers (IMNM). Plasma Hsp90 levels were increased in IIM patients compared to healthy controls (55.9 (46.9 – 62.5)vs 9.76(7.5 – 13.8), p<0.0001), and in individual subgroups of IIM vs. healthy controls (DM-22.01(14.1 – 41.2), PM-19.7(14.3 – 42.2), CADM-18.9(11.7 – 29.7), IMNM-19.6(16.3 – 45.5), p<0.0001 for all). Hsp90 was higher in males compared to females (p=0.040) and in patients with ILD (p=0.003), cardiac involvement (p=0.004), dysphagia (p=0.018) and presence of anti-Ro52 (p=0.036). Hsp90 levels in all patients positively correlated with muscle enzymes (Tab.1). Hsp90 was associated with disease activity and skeletal muscle involvement (Tab.1). Out of all clinical parameters listed in above-mentioned univariate analysis, in multiple regression analysis Hsp90 levels in IIM patients were significantly affected by muscle enzymes only (p<0.0001, β=0.345). Furthermore, Hsp90 positively correlated with some crucial cytokines involved in pathogenesis of myositis (Tab. 1).Tab 1Clinical parametersSpearman’s rp – valueLDH; AST; ALT0.554; 0.383; 0.181< 0.0001; < 0.0001; 0.003PtDGA; PhDGA; MITAX; MYOACT0.223; 0.217; 0.175; 0.159< 0.001; < 0.001; 0.004; 0.012Pulmonary disease activity0.2010.001Muscle disease activity0.1460.018MMT8, total score; m. biceps brachii; m. gluteus maximus; m. iliopsoas-0.126; -0.125; -0.159; -0.1430.042; 0.043; 0.011; 0.023MDI – Myositis damage index – severity0.1500.041Current Prednisone equivalent dose0.1830.006Cytokines:IL-1b; IL-2; IL-4; IL-6; IFN-γ0.188; 0.269; 0.190; 0.182; 0.2290.002; < 0.0001; 0.002; 0.003; < 0.0001Conclusion:We demonstrate increased Hsp90 expression in IIM muscle biopsy samples, specifically in inflammatory cells, degenerating, regenerating and/or necrotic fibers. Increased Hsp90 plasma levels in IIM patients are associated with disease activity and damage, and with the involvement of proximal skeletal muscles, heart and lungs.Acknowledgments:Supported by AZV-16-33542A, MHCR 023728 and SVV – 260373.Disclosure of Interests:Hana Štorkánová: None declared, Sabina Oreska: None declared, Maja Špiritović: None declared, Barbora Heřmánková: None declared, Olga Kryštůfková: None declared, Heřman Mann: None declared, Martin Komarc: None declared, Josef Zámečník: None declared, Karel Pavelka Consultant of: Abbvie, MSD, BMS, Egis, Roche, UCB, Medac, Pfizer, Biogen, Speakers bureau: Abbvie, MSD, BMS, Egis, Roche, UCB, Medac, Pfizer, Biogen, Jiří Vencovský: None declared, Ladislav Šenolt: None declared, Michal Tomcik: None declared

scholarly journals P.075 Inflammatory Myositis associated with Myasthenia Gravis with and without thymic pathology: case series and literature review

2018 ◽  
Vol 45 (s2) ◽  
pp. S36-S36
Author(s):  
K Huang ◽  
M Mezei ◽  
K Shojania ◽  
N Amiri ◽  
N Dehghan ◽  
...  
Keyword(s):  
Literature Review ◽  
Myasthenia Gravis ◽  
Clinical Features ◽  
Medical Records ◽  
Case Series ◽  
Muscle Involvement ◽  
Inflammatory Myositis ◽  
Disease Modifying ◽  
Disease Modifying Agents ◽  
Pathology Data

Background: The association of myasthenia gravis (MG) and inflammatory myositis (IM) is rare and often only one of the diseases is diagnosed. Methods: In this study, we reviewed medical records of patients seen at NMDU from 2004 to 2017 who had diagnosis of concurrent MG and IM. The data is presented descriptively. -Results: We identified 7 patients with MG-IM overlap. Clinical features, laboratory and pathology data of the patients are summarized in Table 1. Conclusions: This is one of the largest case series with MG-IM overlap. It is very important to recognize such association and the different pattern of muscle involvement because therapies may be adjusted to treat both conditions. In patients with thymic pathology, conventional disease modifying agents, IVIG and glucocorticoid in addition to thymoma resection appear to be effective. In patients with refractory MG and myositis who were AChR negative, rituximab may be effective.

scholarly journals AB0565 HOSPITALIZATION IN A COHORT OF PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHY: WHAT IS HAPPENING IN ARGENTINA?

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1579.1-1580
Author(s):  
F. Arizpe ◽  
M. Cosentino ◽  
A. C. Costi ◽  
V. Martire ◽  
A. Testi ◽  
...  
Keyword(s):  
Intravenous Immunoglobulin ◽  
Inflammatory Myopathy ◽  
Idiopathic Inflammatory Myopathy ◽  
Unfavorable Outcome ◽  
Categorical Variables ◽  
High Morbidity ◽  
Inflammatory Myopathies ◽  
Muscle Involvement ◽  
Factors Associated ◽  
Severe Infections

Background:Inflammatory myopathies are rare diseases that affect multiple organs and systems, with poor prognosis and high in-hospital mortality.(1,2)In Argentina there are few reported data regarding hospitalization and its outcomes in these patients.Objectives:To analyze the characteristics of hospitalizations and the factors associated with poor outcome in adult patients with Idiopathic Inflammatory Myopathy (IIM).Methods:Retrospective, analytical study. We included patients ≥ 18 years with IIM, according to Bohan and Peter and/or ACR / EULAR 2017 criteria, who were admitted in our hospital between 2003 and 2019 at least once. Sociodemographic and clinical data were recorded. We defined “unfavorable outcome” as the presence of one of the following events: death, mechanical respiratory assistance and/or critical care unit requirement. Continuous variables were compared by Student’s or Mann Whitney’s T test, and categorical variables by Chi2test or Fisher’s exact test. Binary logistic regression was performed to identify independent factors associated with an unfavorable outcome.Results:61 hospitalizations of 40 patients with IIM were evaluated; 67.5% of the patients were female (27/40), with a mean age of 52.5 years (SD± 13). The most frequent reason of admission was for diagnosis (44.3%) followed by disease activity (31.1%). In 78.7% of hospitalizations (48/61) the diagnosis was dermatomyositis. The median of hospitalization days was 14 (IQR 8-30). In 21 out of 61 hospitalizations (34.4%), an unfavorable outcome was observed, of which 17 (80.9%) ended in death. Respiratory muscle involvement (p = 0.01), thrombocytopenia (p < 0.001), treatment with intravenous methylprednisolone pulses (p = 0.032), Intravenous Immunoglobulin (p = 0.001), longer hospitalization (p = 0.001) and severe infections (p = 0.001) were associated with adverse outcomes. In the multivariate analysis, serious infections (OR: 21.7; IC95 1.77 - 266; p = 0.016) and the requirement of Intravenous Immunoglobulin (IVIg) (OR: 54.5; IC95 1.4 - 214; p = 0.033) were found to be independently associated with an unfavorable outcome.Conclusion:IIMs are diseases with high morbidity and mortality rate. In this cohort of hospitalized patients, we found a high percentage of unfavorable outcomes. Seriously ill patients received IVIg more frequently, and severe infections were associated with worse prognosis.References:[1]Selva-O’Callaghan, A., Pinal-Fernandez, I., Trallero-Araguás, E., Milisenda, J. C., Grau-Junyent, J. M., & Mammen, A. L. (2018).Classification and management of adult inflammatory myopathies. The Lancet Neurology, 17(9), 816–828.[2]Wu C, Wang Q, He L, Yang E, Zeng X (2018)Hospitalization mortality and associated risk factors in patients with polymyositis and dermatomyositis: A retrospective case-control study. PLoS ONE 13(2): e0192491.Disclosure of Interests:None declared

scholarly journals AB0610 SEASONAL VARIATION IN IDIOPATHIC INFLAMMATORY MYOPATHIES INCIDENCE AND PRESENTATION: A RETROSPECTIVE STUDY IN BEIJING AND HONG KONG

2020 ◽  
Vol 79 (Suppl 1) ◽  
pp. 1601.2-1601
Author(s):  
H. So ◽  
Y. Shen ◽  
T. L. V. Wong ◽  
R. Ho ◽  
T. Li ◽  
...  
Keyword(s):  
Hong Kong ◽  
Seasonal Variation ◽  
Seasonal Pattern ◽  
Inflammatory Myopathy ◽  
Disease Onset ◽  
Chinese Patients ◽  
Seasonal Patterns ◽  
Idiopathic Inflammatory Myopathies ◽  
Inflammatory Myopathies ◽  
Muscle Involvement

Background:Seasonal patterns of disease onset and severity in idiopathic inflammatory myopathies (IIMs) as a whole are conflicting [1-3]. In recent years, over 10 myositis-specific antibodies (MSAs) have been identified. They are able to divide patients into homogenous subgroups and inform on prognosis [4].Objectives:The objective of the study was to investigate the seasonal variation of onset of IIMs characterised serologically.Methods:This was a multi-centred retrospective observational study. Consecutive Chinese patients with IIMs admitted to the rheumatology wards of the participating major regional hospitals in Beijing and Hong Kong from July 2013 to June 2018 were recruited. The diagnosis of IIMs was based on the Bohan and Peter’s criteria with definite or probable cases being included [5]. Patients with clinically amyopathic disease must have the typical Gottron’s papules or heliotrope rash as determined by rheumatologists or dermatologists, and with no symptoms or signs of muscle involvement according to Sontheimer [6]. Patients with juvenile myositis, inclusion body myositis, cancer-associated myositis and myositis associated with other connective tissue disease were excluded. A commercial line blot immunoassay kit (EUROLINE) was used to detect the MSAs.Results:All together 495 patients were studied. The mean age of the patients at disease onset was 48.1 years (S.D. 13.3). There was a female predominance (68.3%). The subgroups of IIMs were: dermatomyositis (61.0%), polymyositis (21.8%), clinically amyopathic dermatomyositis (12.9%), immune mediated necrotising myopathy (3.8%) and nonspecific myositis (0.4%). No particular seasonal pattern in disease onset was observed in IIM patients as a whole (Figure 1) or in any classical subgroups. However, significantly more patients with any one MSA had their disease started in the first half of the year (p=0.007) as shown in Figure 2. Patients with either anti-synthetase or anti-MDA5 antibodies, which are associated with interstitial lung disease, had more frequent disease onset from November to February, which might coincide with the local flu season. It was also found that MSA positivity was associated with infection of the patient (p=0.005). Further analyses showed that patients with MSAs which are typically associated with severe skin disease (MDA5, TIF1g, NXP2, SAE) had more hospitalisation from April to September where excessive sun exposure is expected. There were no major differences between the Beijing and Hong Kong subgroups.Conclusion:Apparent seasonal patterns were noticed in our ethno-serologically defined IIM patients. Certain environmental factors, particularly infection or UV exposure, could be potential triggers. Our findings could shed light on the identification of etiologic factors and enhance our understanding of disease pathogenesis.References:[1]Manta P, Kalfakis N, Vassilopoulos D. Evidence for Seasonal Variation in Polymyositis. Neuroepidemiology 1989;8:262–265.[2]Phillips BA, Zilko PJ, Garlepp MJ, et al. Seasonal occurrence of relapses in inflammatory myopathies: a preliminary study. J Neurol 2002;249:441–4.[3]Lefe R, Burgess S, Miller F, et al. Distinct Seasonal Pattern in The Onset of Adult Idiopathic Inflammatory Myopathy in Patients with Auto Antibodies Anti-Jo-1 and Anti-Signal Recognition particle. Arthritis and Rheumatism 1991;34(11):1391-1396.[4]Tansley SL, Betterridge ZE, McHugh NJ. The diagnostic utility of autoantibodies in adult and juvenile myostis. Curt Opin Rheumatol 2013;25(6):772-777.[5]Bohan A, Peter JB. Polymyositis and dermatomyositis. N Engl J Med 1975;292:344-347.[6]Sontheimer RD. Clinically myopathic dermatomyositis: what can we now tell our patients? Arch Dermatol 2010;146(1):76-80.Disclosure of Interests:None declared

scholarly journals Clinical characteristics of inpatients with coronavirus disease 2019 (COVID-19) in Sichuan province

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wen Wang ◽  
Lei Chen ◽  
Qiao He ◽  
Mingqi Wang ◽  
Mei Liu ◽  
...  
Keyword(s):  
Mechanical Ventilation ◽  
Clinical Features ◽  
Medical Records ◽  
Clinical Characteristics ◽  
Sichuan Province ◽  
Chest Ct ◽  
Shortness Of Breath ◽  
Course Of Disease ◽  
West China ◽  
Radiologic Abnormality

Abstract Background The outbreak of COVID-19 has resulted in serious concerns in China and abroad. To investigate clinical features of confirmed and suspected patients with COVID-19 in west China, and to examine differences between severe versus non-severe patients. Methods Patients admitted for COVID-19 between January 21 and February 11 from fifteen hospitals in Sichuan Province, China were included. Experienced clinicians trained with methods abstracted data from medical records using pre-defined, pilot-tested forms. Clinical characteristics between severe and non-severe patients were compared. Results Of the 169 patients included, 147 were laboratory-confirmed, 22 were suspected. For confirmed cases, the most common symptoms from onset to admission were cough (70·7%), fever (70·5%) and sputum (33·3%), and the most common chest CT patterns were patchy or stripes shadowing (78·0%); throughout the course of disease, 19·0% had no fever, and 12·4% had no radiologic abnormality; twelve (8·2%) received mechanical ventilation, four (2·7%) were transferred to ICU, and no death occurred. Compared to non-severe cases, severe ones were more likely to have underlying comorbidities (62·5% vs 26·2%, P = 0·001), to present with cough (92·0% vs 66·4%, P = 0·02), sputum (60·0% vs 27·9%, P = 0·004) and shortness of breath (40·0% vs 8·2%, P <  0·0001), and to have more frequent lymphopenia (79·2% vs 43·7%, P = 0·003) and eosinopenia (84·2% vs 57·0%, P = 0·046). Conclusions The symptoms of patients in west China were relatively mild, and an appreciable proportion of infected cases had no fever, warranting special attention.

Clinical features, imaging findings and outcomes of headache associated with sexual activity

Cephalalgia ◽  
2010 ◽  
Vol 30 (11) ◽  
pp. 1329-1335 ◽  
Author(s):  
Yen-Chi Yeh ◽  
Jong-Ling Fuh ◽  
Shih-Pin Chen ◽  
Shuu-Jiun Wang
Keyword(s):  
Sexual Activity ◽  
Clinical Features ◽  
Age At Onset ◽  
Neurological Deficits ◽  
Artery Dissection ◽  
Imaging Findings ◽  
Cerebral Vasoconstriction ◽  
The Central Nervous System ◽  
Headache Clinic ◽  
Neurovascular Imaging

Objectives: To study the clinical profiles, imaging findings and outcomes and field test the diagnostic criteria proposed by the International Classification of Headache Disorders, 2nd edition (ICHD-II) in patients with headache associated with sexual activity (HSA). Methods: We recruited 30 patients (16 men, 14 women, mean age at onset 40.2 ± 10.0 years) with headache associated with sexual activity at a headache clinic from 2004 to 2009. None of the patients had neurological deficits at onset. Results: Twenty patients (67%) had secondary causes, including one subarachnoid hemorrhage, one basilar artery dissection, and 18 cases reversible cerebral vasoconstriction syndrome (RCVS). Ten patients (33%) had primary HSA. The demographics, headache profiles, drug response and clinical course were similar between primary and secondary HSA. Compared to prior studies done in Western societies, our patients had similar clinical features but with a higher ratio of females (50%) and a higher frequency of chronic course (39%). Discussion: Sixty-seven percent of patients with RCVS could not fulfill the criteria of reversible angiopathy of the central nervous system (Code 6.7.3) proposed by the ICHD-II. The most common reason was headache resolution in more than two months. In addition, 40% of patients with primary HSA could not fulfill the ICHD-II criteria for primary HSA (Code 4.4). Conclusions: Our study found that intracranial vascular disorders were very common in patients with HSA. Thorough neurovascular imaging is required for all patients with HSA.

Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012542
Author(s):  
Shahar Shelly ◽  
Niaz Talha ◽  
Naveen L Pereira ◽  
Andrew G. Engel ◽  
Jonathan N Johnson ◽  
...  
Keyword(s):  
Skeletal Muscle ◽  
Cardiac Transplantation ◽  
Amorphous Material ◽  
Age At Onset ◽  
Cardiac Transplant ◽  
Muscle Involvement ◽  
Cardiac Symptoms ◽  
Skeletal Muscle Involvement

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.

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