Researchers Narrowing Mechanism of Brain Problems in Myotonic Dystrophy

Many of us in the Myotonic Dystrophy World find that among the most significant factors affecting us are related to brain function. Depression, Lack of Motivation, Apathy, Indifference, and Loss of executive function makes living much less tolerable. In a nutshell these changes create Terrible problems socially and emotionally. Now researchers have identified the issue that they think causes the disease. The good news is that the mechanism for the brain looks like the mechanism for many of the other issues as well. It’s the same as for muscle and other tissues. So if a cure is found in the future it will not just help with heart and muscle it may help with the most devastating issues that of the Brain as well. At the Recent MDF conference in San Fransisco one potential therapy in early stages may work not only in muscle but if injected into the Spinal fluid might help with brain issues.

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Wonderful Conference in San Fransisco

The conference in San Fransisco was awesome. Loved every minute of it. Met some wonderful people. I got to the conference on the Thurs night. It was an awesome night. Saw Molly white the new executive director she and Amy were running ragged trying to keep everything together. Had a chance to talk with a number of families that night you had come across country for the conference.

Unfortunately I came down sick that night. maybe some food I should not have eaten. I went to an Afghan Restaurant and maybe that did it. Anyway I was able to come and see the first session Cardiac issues which was a lot of fun and very informative.The next session was DM Care and the Advocate’s Role, Dr. Cynthia Gagnon. This was an excellent presentation. She at the end went over the importance of a nurse advocate in working with DM patients. Cynthia is from Canada and they have many resources available in Quebec to help. They are working on the new checklist for management of myotonic dystrophy which is part of an international consortium. Some thoughts here:

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Activities that Children like

Activities That Children Like

So what kind of things do kids with CMD like to do? I am basing this page on my son, Christopher. You may want to consider some of these activities for Children with CMyD.

picture of kid with mac

Computer

Computer games and video and movement in general seems to keep these kids interested. Christopher uses both a MAC and a PC computer. Early on he used an Edmark Touchscreen but later graduated to a mouse after he hit and damaged the touchscreen. He uses most software that has an age equivalent of about 3-8 years old with most of his skills in the 4 year old range. Some software:

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Children and behaviorial Problems

Behavioral Problems

Both the Roig Study and some personal correspondence have indicated that older children with CMyD have some behavioral issues that might evolve. I only have very scant information on this subject but here are a few behaviors that have been seen:

Oral Fixation: Children or young adults become quite oral and will suck on hands or clothing.

Spontaneous Laughter: Will laugh to some internal thought for no external reason.

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Breathing Problems

Mechanism of CO2    Retention in Patients With Neuromuscular Disease*
[Clinical    Investigations: Control Of Breathing]
Misuri, Gianni MD; Lanini, Barbara MD; Gigliotti, Francesco MD; Iandelli, Iacopo MD; Pizzi, Assunta MD; Bertolini, Maria Grazia RT; Scano, Giorgio MD, FCCP
*From the Fondazione Don C. Gnocchi, ONLUS, Pozzolatico (Firenze), Italy.
Manuscript received February 26, 1999; revision accepted September 21, 1999.
This study was supported by a grant from MPI of Italy.
Correspondence to: Giorgio Scano, MD, FCCP, Section of Respiratory Disease, Fondazione Don C. Gnocchi, ONLUS, Pozzolatico, Via Imprunetana, Pozzolatico (Firenze), CAP 50020 Italy; e-mail: riabrfi@tin.it
Abstract

Background: In many studies of patients with muscle weakness, chronic hypercapnia has appeared to be out of proportion to the severity of muscle disease, indicating that factors other than muscle weakness are involved in CO2 retention. In patients with COPD, the unbalanced inspiratory muscle loading-to-strength ratio is thought to trigger the signal for the integrated response that leads to rapid and shallow breathing and eventually to chronic hypercapnia. This mechanism, although postulated, has not yet been assessed in patients with muscular dystrophy.

Abbreviations: Eldyn = dynamic lung elastance; Eldyn (%Pplsn) = elastic load per unit of inspiratory muscle force; FRC = functional residual capacity; LGD = limb-girdle dystrophy; MD = myotonic dystrophy; MEP = maximal expiratory pressure; MIP = maximal inspiratory pressure; NMD = neuromuscular disease; NS = not significant; Pi = mean inspiratory driving pressure; P0.1 = mouth occlusion pressure; Ppl = pleural pressure; Pplsn = pleural pressure during a sniff maneuver; Rf = respiratory frequency; RL = lung resistance; RSB = rapid and shallow breathing; TE = expiratory time; TI = inspiratory time; TTOT = total time of respiratory cycle; VC = vital capacity; [latin capital V with dot above]E = minute ventilation; VT = tidal volume; Zrs = impedance of the respiratory system
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Materials and Methods
Subjects
Twenty consecutive patients (10 men) with a mean age of 47.6 years (range, 23 to 67 years) were studied: 11 patients with limb-girdle dystrophy (LGD), 3 with Duchenne muscular dystrophy, 2 with amyotrophic lateral sclerosis, 1 with Charcot-Marie-Tooth syndrome, 1 with Becker muscular dystrophy, 1 with MD, 1 with facioscapulohumeral dystrophy, and no respiratory complaints. Nine were ambulatory, and 11 were wheelchair bound. The standard criteria were used to select patients. 20,21

None of the patients had a scoliosis nor any abnormalities on chest radiograph nor obvious abnormalities in diaphragm placement. Five patients were current mild smokers (<=5 pack-years).

Seventeen normal subjects matched for age (range, 26 to 62 years; mean, 41.5 years) and sex (8 men) were studied as a control group. The study was approved by the local ethics committee, and the subjects gave their informed consent.

The anthropometric characteristics of the patients are shown in Table 1.

Functional Evaluation

Routine spirometry, obtained with the patients seated in a comfortable armchair, was measured as previously described. 13,16,22 Functional residual capacity (FRC) was measured by the helium dilution technique. The normal values for lung volumes were those of the European Community for Coal and Steel. 23 Arterial blood gas tensions were measured with a blood gas analyzer (IL-1304; Instrumentation Laboratory; Milan, Italy).

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Protocol All subjects were tested in the morning. Before the experiment, the subjects were well acquainted with the laboratory and equipment. An arterial blood sample and lung function tests were performed, and then changes in volume, flow, and Ppl were recorded. Finally, the respiratory muscle strength tests were performed in each patient.

Data Analysis
Volume and time components of the respiratory cycle, RL, and Eldyn were averaged in each patient over 30 consecutive breaths. Eldyn was expressed both as an actual value and as a percent of Pplsn, an index of the balance between the elastic load of the lung relative to the maximal inspiratory force available. Single and stepwise multiple regression analyses were performed to assess relationships between variables. The statistical analysis we carried out considers the dependency of a variable (eg, the level of PaCO2) on a series of independent variables. The effect of each variable on PaCO2 was evaluated independent of the effect of all other variables. In a multivariate analysis, a rule of thumb is to limit the number of variables as a function of the number of patients.28 Thus, multiple regression analysis with stepwise selection of the independent variables was carried out relating PaCO2 to functional variables. The proportion of total variance in the dependent variable accounted for by the predicted variables is reported as the square of the correlation coefficient (r2). Single regression analysis was performed using Pearson’s single correlation coefficient. Comparisons between groups were made using the Mann-Whitney U test. A value of p < 0.05 was considered as the threshold of statistical significance. Data are presented as mean ± SD unless otherwise specified. .

Results

Clinical, anthropometric, and respiratory function characteristics of the patients (and control subjects) are shown in Table 1. As shown in Table 1, vital capacity (VC) was reduced in 11 patients, as was total lung capacity in 9. The means of MIP (47.8 ± 28.3 cm H2O; range, 11 to 127 cm H2O; p = 0.00001) and MEP (49.5 ± 26.2 cm H2O; range, 15 to 104 cm H2O; p = 0.00002) were significantly lower than in control subjects. In 11 patients and 10 patients, the values of MIP and MEP, respectively, were lower than the mean – 2 SD of the value calculated for the control subjects. Arterial blood gases were normal in all but eight patients in whom PaCO2 was considered to be high (>= 45 mm Hg) and in three patients in whom PaCO2 was low (< 80 mm Hg). In some of the patients, and particularly in patients 12 and 14, in whom PaCO2 was normal, a high level of ventilation was found.

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Discussion
We have found that in patients with NMD, Eldyn (%Pplsn) is the strongest predictor of the variance in PaCO2. Increased Eldyn (%Pplsn) was associated with a decreased TI, which truncates VT, thereby leading to chronic CO2 retention (PaCO2).
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References
1 Begin R, Bureau MA, Lupien L, et al. Control of breathing in Duchenne’s muscular dystrophy. Am J Med 1980; 69:227-234
2 Kilburn KH, Eagen JT, Sieker HO, et al. Cardiopulmonary insufficiency in myotonic and progressive muscular dystrophy. N Engl J Med 1959; 261:1089-1096
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