'It becomes the new everyday life' - experiences of chronic pain in everyday life of people with limb-girdle muscular dystrophy.

PURPOSE: To investigate experiences and reflections on challenges in everyday life of people living with limb-girdle muscular dystrophy (LGMD) and chronic pain in order to improve rehabilitation services. MATERIALS AND METHODS: The design for this study was qualitative using the Interpretive Description methodology and the salutogenic theory of Sense of Coherence as the theoretical framework. Four semi-structured focus group interviews were conducted with 19 adults with LGMD from April to May 2021. The interviews were conducted online due to COVID-19. RESULTS: Living with chronic pain and LGMD affected everyday life in terms of the participants' overall Sense of Coherence. Beneficial or unfavorable coping strategies were identified within four interrelated categorical themes: pain management, normality comprehension, affected emotional sentiment and altered identity. CONCLUSION: Healthcare professionals should acknowledge possible chronic pain secondary to LGMD. Chronic pain appears to be a prevalent problem in people with LGMD with negative impact on everyday life, yet patients with LGMD did not receive sufficient information and necessary tools from health professionals to cope with chronic pain. Thus, adequate pain management appeared to be a difficult and self-taught process. Educating health professionals on how to support patients with LGMD and chronic pain is needed.IMPLICATIONS FOR REHABILITATIONHealth professionals should acknowledge and address the possibility of chronic pain secondary to limb-girdle muscular dystrophy (LGMD) and educate patients in pain management.Physiotherapy, energy management and engagement in meaningful activities may help patients gain some control of pain and limit the consequences of pain on everyday life.Supporting patients to accept pain and to shift focus towards their current capabilities may potentially improve pain management.Educating health professionals on how to support patients with LGMD and chronic pain is needed.

Clinical Course of Four Neuromuscular Disease Patients Infected COVID-19

Introduction: Information on COVID-19 infection prevention measures and vaccines for patients with neuromuscular diseases has been sufficiently disseminated, but the details of the actual course of infected patients are rarely directly involved by neurologists. We report four cases of COVID-19 with neuromuscular diseases and were able to observe their progress. Subjects: 1 case of multiple sclerosis (MS), 1 case of chronic inflammatory demyelinating polyradiculoneuropathy / dermatitis (CIDP / DM), 1 case of limb-girdle muscular dystrophy (LGMD) and one Duchenne muscular dystrophy carrier (DMD-C) were examined. Result: MS: A 32-year-old man who was taking fingolimod, but improved by waiting at home, and he did not relapse. CIDP / DM: 54-year-old female, PSL, taking tacrolimus, using remdesivir for pneumonia. After recovery, peripheral neuropathy worsened, and steroid pulse treatment was added. LGMD: 48-year-old female Although she had pneumonia, she did not need to be ventilated and improved with only oxygen administration and favipiravir without deterioration of% VC. DMD-C: 59-year-old female, improved only by oxygen administration. The DMD (second son, 29 years old) who were cared by her was hospitalized because no one could care him. Discussion: All cases were affected prior to vaccination. Regarding CIDP, there was a case report of deterioration after illness, and this case also deteriorated and required treatment. LGMD / DMD-C did not show any deterioration in respiratory function. It is a study of a small number of cases, and it is necessary to accumulate future cases.

Recurrent, non-traumatic, non-exertional rhabdomyolysis after immunologic stimuli in a healthy adolescent female: a case report.

BACKGROUND: Dysferlinopathy refers to a heterogenous group of autosomal recessive disorders that affect a skeletal muscle protein called dysferlin. These mutations are associated with limb-girdle muscular dystrophy type 2B, Miyoshi myopathy, asymptomatic hyperCKemia, and distal myopathy with anterior tibial onset. CASE PRESENTATION: A 16 year old female presented with myalgia, weakness and dark urine one week after her second BNT162b2 mRNA (Pfizer) vaccine. Initial serum creatine kinase (CK) was measured at 153,000 IU/L, eventually up-trending to over 200,000 IU/L. However, stable renal function precluded hemodialysis allowing discharge after 10 days of intravenous (IV) hydration and alkaline diuresis. Just two years prior to the current presentation, the patient was hospitalized following Group A Streptococcal pharyngitis infection complicated by rhabdomyolysis. She presented with fatigue, lower extremity weakness, and dark oliguria with CK measuring 984,800 IU/L. IV hydration was attempted however hemodialysis was ultimately required throughout her 24-day hospital stay. Her episode was presumed to be idiopathic and no further work-up was performed at that time. During the patient's current hospitalization, she reported similar symptomology (myalgias and weakness) following her first quadrivalent Gardasil vaccine at age 11. No hospitalization was required at that time. A comprehensive workup was now initiated while the patient was being treated for her suspected second or third non-exertional, non-traumatic rhabdomyolysis. Rheumatologic, metabolic, infectious, and endocrinologic workup were all unremarkable. Patient eventually had whole exome sequencing performed which revealed a heterozygous pathogenic variant in the DYSF gene (DYSF c.2643 + 1G > A) encoding dysferlin. No clinically significant sequelae occurred thus far. CONCLUSIONS: While there have been reports of symptomatic heterozygote carriers of dysferlinopathies, to our knowledge none have been associated with recurrent rhabdomyolysis after immunogenic stimuli. This unique case presentation highlights the importance of a multi-disciplinary care team, the utility of modern whole-exome gene sequencing, and the future challenges of balancing vaccine risk vs benefit.

A broken heart? Unexplained cardiac ischaemia after intrauterine fetal death

Introduction: Cardiac disease is the leading cause of maternal death in the UK [1].We present the case of awoman with late intrauterine fetal death (IUFD) and intrapartum cardiac ischaemia. A family history of limb girdle muscular dystrophy (LGMD) may be relevant. Case Report: A 23-year-old nulliparous woman at 39 weeks of gestation presented with reduced fetal movements and IUFD was confirmed. She had no medical history, and despite two first degree relatives with LGMD, she was asymptomatic and had not been tested. Uterine contractions started and epidural analgesia was initiated. Shortly thereafter, the woman was found to be bradycardic at 35– 40 beats/min. All other observations were normal and she was asymptomatic with no detectable sensory or motor block. A 12 -lead ECG showed inferior T-wave inversion and serial troponins were markedly elevated. Caesarean section (CS) under general anaesthesia was performed at maternal request and was uneventful. Postpartum echocardiogram demonstrated a dilated left atrium, left ventricular akinesis and an ejection fraction of 45–50%. The next day the woman developed chest pain and desaturated. CTPA and CT coronary angiogram were normal. Oxygenation improved and other than sporadic chest heaviness she remained well and was discharged 4 days post CS. Cardiology follow-up did not occur due to a communication breakdown. Post-mortem of the fetus found no cause for the IUFD and no features of LGMD. Thewoman suffered a miscarriage four months after this but delivered a healthy baby at elective CS two years later. During the latter pregnancy cardiology input from a tertiary centrewas requested but did not occur due to the COVID-19 pandemic. An echocardiogram in the third trimester was normal and the woman has been well since. Discussion: Troponin rise is abnormal in pregnancy and requires investigation. IUFD in itself can lead to sequelae requiring a low threshold for investigation. The family history in this case is autosomal dominant type 1B LGMD, associated with cardiomyopathy and arrhythmias [2]. The woman has declined testing and the cause for the peripartum cardiac disease remains unknown. The recovery and recent uneventful pregnancy suggest Takotsubo’s cardiomyopathy or coronary vasospasm as additional possible diagnoses. This case also underlines the importance in sensitive communication in cases of IUFD to ensure women are investigated and not lost to follow-up.