Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2.

Pain is a common but often ignored symptom in patients with myotonic dystrophy type 2 (DM2). In this explorative study, we assessed qualitative and quantitative aspects of pain in DM2 using 4 questionnaires and quantitative sensory testing. A disease control group (fibromyalgia [FMS]) as well as healthy controls were used to compare the results, because pain in DM2 shows many clinical similarities to pain in FMS. Thirty-four patients with genetically confirmed DM2 (71% female, mean age 54 years), 28 patients with FMS, and 33 healthy controls were included, age- as well as sex-matched. Pain prevalence was 65% in DM2, 100% in FMS (P < .001), and 15% in healthy controls (P < .001). The mean of the pressure pain thresholds was lower in DM2 than in healthy controls (P = .016), with the largest differences in the rectus femoris, trapezius, and thenar muscles. Mechanical and electric pain thresholds were significantly higher in DM2 than in FMS, and no differences were found in electric pain thresholds between DM2 and healthy controls. These results confirm that pain is a frequent and important symptom in patients with DM2, affecting quality of life. Peripheral mechanisms of pain seem to play a role in DM2. The widespreadness of the hyperalgesia suggests central sensitization, but this finding was not supported by the other results. This study opens new avenues for further research and eventually novel treatment strategies, in DM2 as well as in other muscular disorders. PERSPECTIVE: This article presents qualitative as well as quantitative aspects of pain in patients with DM2. Pain is a frequent and important symptom in patients with DM2, affecting quality of life. We found mechanical hyperalgesia, indicative of a peripheral mechanism of pain. The widespreadness of hyperalgesia may suggest central sensitization, but this finding was not supported by other results and needs further exploration.

Hearing impairment in patients with myotonic dystrophy type 2.

OBJECTIVE: To systematically assess auditory characteristics of a large cohort of patients with genetically confirmed myotonic dystrophy type 2 (DM2). METHODS: Patients with DM2 were included prospectively in an international cross-sectional study. A structured interview about hearing symptoms was held. Thereafter, standardized otologic examination, pure tone audiometry (PTA; 0.25, 0.5, 1, 2, 4, and 8 kHz), speech audiometry, tympanometry, acoustic middle ear muscle reflexes, and brainstem auditory evoked potentials (BAEP) were performed. The ISO 7029 standard was used to compare the PTA results with established hearing thresholds of the general population according to sex and age. RESULTS: Thirty-one Dutch and 25 French patients with DM2 (61% female) were included with a mean age of 57 years (range 31-78). The median hearing threshold of the DM2 cohort was higher for all measured frequencies, compared to the 50th percentile of normal (p < 0.001). Hearing impairment was mild in 39%, moderate in 21%, and severe in 2% of patients with DM2. The absence of an air-bone gap with PTA, concordant results of speech audiometry with PTA, and normal findings of BAEP suggest that the sensorineural hearing impairment is located in the cochlea. A significant correlation was found between hearing impairment and age, even when corrected for presbycusis. CONCLUSIONS: Cochlear sensorineural hearing impairment is a frequent symptom in patients with DM2, suggesting an early presbycusis. Therefore, we recommend informing about hearing impairment and readily performing audiometry when hearing impairment is suspected in order to propose early hearing rehabilitation with hearing aids when indicated.

The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study.

OBJECTIVE: The aim was to examine the prevalence of abnormal creatine kinase (CK) and thyroid stimulating hormone (TSH) values and previously unknown myopathy or thyroid disease in patients with suspected FM syndrome (FMS). METHODS: All adult patients with suspected FMS referred to the study hospital between November 2011 and April 2014 could participate. Patients with a history of myopathy or a previous diagnosis of thyroid disorder were excluded. Outcome measures were the percentages of abnormal CK and TSH values and the final diagnosis in those patients. RESULTS: Three hundred and seventy-three patients were included in this study (94% female, mean age 42 years). Of these patients, 7.5% (95% CI: 5.2, 10.6%) had an abnormal CK according to the local reference values. Applying the European Federation of the Neurological Societies guideline, this changed to 0.5% (95% CI: 0.2, 1.9%). In none of these patients was hyperCKaemia-related myopathy diagnosed, and the final diagnosis was FMS in 89% of the patients. Of the total number of patients, 3.5% (95% CI: 2.1, 5.9%) had an elevated TSH and 1.4% (95 CI: 0.6, 3.1%) a lowered TSH, with one patient having a somewhat lowered free thyroid hormone level. The final diagnosis was FMS in all these patients. CONCLUSION: Abnormal CK and TSH values are rare in patients with suspected FMS and do not result in an alternative diagnosis. Therefore, it seems that routine testing of CK and TSH levels in patients with suspected FMS referred to secondary care does not contribute to the diagnostic process.

The Coping with Attention and Memory Complaints Questionnaire (CAMQ): psychometric evaluation of an instrument in suspected chronic solvent-induced encephalopathy (CSE).

Long-term occupational exposure to organic solvents may induce chronic solvent-induced encephalopathy (CSE), leading to neuropsychological impairments. We developed the Coping with Attention and Memory Complaints Questionnaire (CAMQ), an instrument for the assessment of coping strategies in patients suspected of CSE with neuropsychological complaints. Items for the CAMQ were based on existing coping dimensions and constructed by experts. The psychometric properties of the CAMQ were evaluated in a sample of 307 workers suspected of CSE. Factor analysis revealed four coping subscales: active coping, avoidance, acceptance, and seeking social support, all with good internal consistency (alphas .71-.78) and good test-retest reliability (ICCs .67-.82). The subscales demonstrated moderate correlations with related external constructs such as anxiety and depression, locus of control, meta-memory, mastery and generic coping styles. In conclusion, this study: (1) shows that the newly developed CAMQ is a reliable instrument, and (2) provides evidence for its validity in assessing coping with complaints of memory and attention in CSE-suspected patients. These results may serve for further study on coping with complaints of memory and attention, psychological adjustment and well-being in CSE patients.

EEG leading to the diagnosis of limbic encephalitis.

Limbic encephalitis is characterized by subacute onset of short-term memory loss, seizures, sleep disturbances, as well as psychiatric and behavioral symptoms. A subgroup is associated with voltage-gated potassium channel antibodies (VGKC-Abs). In many cases, brain magnetic resonance imaging (MRI) demonstrates hyperintense areas in the medial part of the temporal lobe. Also, pleiocytosis is frequently found. In this study, we describe a 69-year-old man with VGKC-Abs limbic encephalitis with generalized tonic-clonic seizures, increasing memory deficits, visual hallucinations, depression, and severe insomnia. Brain MRI and cerebrospinal fluid (CSF) were normal, while the electroencephalogram (EEG) showed bilateral frontal and temporal intermittent rhythmic delta activity with disorganization and slowing of background activity, ultimately leading to the diagnosis of limbic encephalitis. The patient improved markedly after starting immunosuppressive therapy, both clinically and electrophysiologically. In addition to temporal lobe involvement on the brain MRI and CSF inflammation, we propose EEG abnormalities as an additional diagnostic criterion for limbic encephalitis.

[Autoimmune limbic encephalitis: importance of early diagnosis and treatment]. / Auto-immune limbische encefalitis: belang van tijdige diagnostiek en behandeling.

BACKGROUND: Autoimmune limbic encephalitis is a rare disorder, characterised by the subacute onset of seizures, short-term memory loss, and psychiatric and behavioural symptoms. Initially, it was recognised as a paraneoplastic disorder, but recently a subgroup of patients without systemic cancer was identified. This type of limbic encephalitis is associated with voltage-gated potassium channel (VGKC) or N-methyl-D-aspartate receptor (NMDAR) antibodies. CASE DESCRIPTION: We describe a 69-year-old man with anti-VGKC limbic encephalitis suffering from generalised tonic-clonic seizures, severe insomnia, increasing memory deficits, visual hallucinations and depression. We also describe a 22-year-old woman, suffering from complex partial seizures and dysphasia, and displaying inappropriate behaviour. She was diagnosed with anti-NMDAR limbic encephalitis. Both showed marked improvement after starting prednisone and intravenous immunoglobulin therapy. CONCLUSION: These case descriptions emphasise the importance of timely recognition of autoimmune limbic encephalitis in order to rule out malignancy and to quickly initiate treatment. This potentially life-threatening disease responds well to immunomodulatory therapy.

Gastrointestinal involvement is frequent in Myotonic Dystrophy type 2.

The phenotype of DM2 shows similarities as well as differences to that of Myotonic Dystrophy type 1 (DM1). Gastrointestinal dysfunction is common in DM1 and 25% of the patients consider this to be the most disabling consequence of the disease. Little is known about gastrointestinal involvement in Myotonic Dystrophy type 2 (DM2). The aim of the study was to explore the occurrence and characteristics of gastrointestinal symptoms in patients with DM2. This was compared to symptoms in adult-onset DM1 patients, and to age- and sex-matched healthy controls. Twenty-nine genetically proven DM2 patients filled out two standardized questionnaires about gastrointestinal symptoms; most important outcome measures were answers to questions about dysphagia, abdominal pain, and constipation. The results were compared to those of 29 adult-onset DM1 patients, and to 87 age- and sex-matched healthy controls. Radiological measurement of colon transit time was investigated in 18 DM2 patients. Dysphagia for liquids (38%) and solid food (41%), abdominal pain (62%), and constipation (62%) were all significantly more common among DM2 patients than among healthy controls, and comparable to their occurrence in DM1. Colon transit time was increased in 24% of the DM2 patients. Our results show that gastrointestinal symptoms are highly prevalent in DM2 patients. Gastrointestinal dysfunction may be attributed to any part of the gastrointestinal tract. The results provide new insight into the clinical picture of DM2.