Susan Walters

Improvement in aerobic capacity after an exercise program in sporadic inclusion body myositis

Objectives: The study aimed to investigate the effects of a combined functional and aerobic exercise program on aerobic capacity, muscle strength, and functional mobility in a group of patients with sporadic inclusion body myositis (IBM). Methods: Aerobic capacity, muscle strength, and functional capacity assessments were conducted on 7 participants with sporadic IBM before and after a 12-week exercise program, which included resistance exercises and aerobic stationary cycling 3 times per week on alternative days. Results: Aerobic capacity of the group increased significantly by 38%, and significant strength improvements were observed in 4 of the muscle groups tested (P < 0.05). The exercise program was well tolerated, and there was no significant change in the serum creatine kinase level after the exercise period. Conclusions: An aerobic exercise program can be safely tolerated by patients with sporadic IBM and can improve aerobic capacity and muscle strength when combined with resistance training. These findings indicate that aerobic and functional muscle strengthening exercise should be considered in the management of patients with IBM.

Globus pallidus stimulation improves both motor and nonmotor aspects of quality of life in advanced Parkinson's disease

Our purpose was to measure the change in quality of life (QoL) following deep brain stimulation of the globus pallidus interna (GPi‐DBS) in advanced Parkinson s disease (PD), and identifies any associations with changes in motor features of the disease. Eleven patients (age range 54–69 years, 2 women) underwent GPi‐DBS (4 unilateral, 7 bilateral). Outcome measures included assessment of PD‐specific QoL (mean 8 months postsurgery) using the PDQ‐39 questionnaire, and standard motor assessments. Off‐period UPDRS III motor scores fell by (43 ± 8)% (mean ± SEM). Dyskinesia severity was reduced on the abnormal involuntary movement scale by (80 ± 3)% and UPDRS IVa by (58 ± 8)%. QoL as assessed by the PDQ39SI improved by (30 ± 5)%, with significant improvements in mobility, activities of daily living, bodily discomfort, emotional wellbeing, communication, and cognitions subscales. Bilateral and unilateral groups demonstrated equivalent PDQ39SI improvement. QoL improvement was highly correlated with dyskinesia reduction but not reduction in UPDRS score or age at surgery. GPi‐DBS markedly improves QoL in advanced PD. The impacts are broad and improve QoL domains not directly affected by the motor symptoms of the disease. Reduced dyskinesia plays a major role in the improvement of QoL in GPi‐DBS treated patients.

The Effectiveness of an Individualized, Home-Based Functional Exercise Program for Patients With Sporadic Inclusion Body Myositis

Objective: The objective of the study was to investigate the effects of a functional exercise program on muscle strength and mobility in a group of patients with sporadic inclusion body myositis (IBM). Methods and Materials: Seven patients with sporadic IBM were tested for muscle strength and functional capacities before and after a 16-week, patient-specific, home-based exercise program involving mild, daily, functional exercises. Results: Significant improvements in isometric strength were demonstrated in all muscle groups tested and were maximal in the hip flexor muscles. In addition, walking and stair climbing times improved in all patients. The exercise program was well-tolerated, and there was no significant change in the serum creatine kinase level following the exercise period. Conclusion: The findings of this study indicate that an individually prescribed home exercise program can be safely implemented and can result not only in significant gains in muscle strength but also in useful improvements in functional capabilities and is therefore beneficial in the management of patients with IBM.

Primary writing tremor: motor cortex reorganisation and disinhibition

BACKGROUND Primary writing tremor (PWT) is a task-specific tremor of uncertain origin. There has been debate as to whether PWT represents a variant of essential tremor or a tremulous form of focal dystonia related to writers cramp. In writers cramp there is evidence of changes in intracortical inhibition (ICI), as well as cortical motor reorganisation. OBJECTIVE To study corticomotor organisation and short-latency ICI in a patient with typical task-specific PWT. METHODS Transcranial magnetic stimulation mapping of the corticomotor representation of the hand and studies of ICI using paired-pulse stimulation were performed in a 47-year-old right-handed woman with a pure task-specific writing tremor. RESULTS The motor maps for the hand were displaced posteriorly on both sides and reverted to a normal position after treatment with botulinum toxin. Short-latency ICI was reduced for the dominant hand. CONCLUSION The findings indicate reorganisation and disinhibition of the corticomotor projection to the hand and point to the participation of cortical centres in the origin of PWT.

Gabapentin can improve postural stability and quality of life in primary orthostatic tremor.

Primary orthostatic tremor (OT) is characterized by leg tremor and instability on standing. High frequency (13–18 Hz) tremor bursting is present in leg muscles during stance, and posturography has shown greater than normal sway. We report on an open‐label add‐on study of gabapentin in 6 patients with OT. Six patients were studied with surface electromyography, force platform posturography, and a modified Parkinsons disease questionnaire (PDQ‐39) quality of life (QOL) scale before and during treatment with gabapentin 300 mg t.d.s. If on other medications for OT, these were continued unchanged. Of the 6 patients, 4 reported a subjective benefit of 50 to 75% with gabapentin, 3 of whom showed reduced tremor amplitude and postural sway of up to 70%. Dynamic balance improved in all 3 patients who completed the protocol. QOL data from 5 patients showed improvement in all cases. No adverse effects were noted. Gabapentin may improve tremor, stability, and QOL in patients with OT, and symptomatic response correlated with a reduction in tremor amplitude and postural sway. The findings confirm previous reports of symptomatic benefit with gabapentin and provide justification for larger controlled clinical trials. Further work is required to establish the optimal dosage and to validate the methods used to quantify the response to treatment.

Blinded placebo crossover study of gabapentin in primary orthostatic tremor

Primary orthostatic tremor (OT) is a rare but disabling condition characterized by leg tremor and feelings of instability during stance. Previous studies have reported a reduction in OT symptoms with gabapentin treatment. In this study, we report on the benefits of gabapentin treatment in a double‐blind placebo‐controlled crossover study of 6 OT patients. First, the maximally effective gabapentin dosage (600–2,700 mg/day) for each patient was determined during an initial dose‐titration phase. Patients were then studied 7 days after drug withdrawal and again after two 2‐week periods of treatment with either gabapentin or placebo, using force platform posturography to quantify postural sway and tremor. Other medications for OT were continued unchanged. Symptomatic response was assessed by a patient‐rated severity scale and quality of life (QOL) questionnaire. All patients reported an increase in symptoms during the washout phase and symptom reduction (50%–75%) during gabapentin treatment. Tremor amplitude was reduced to 79% ± 11% and sway area to 71% ± 11% of the placebo state. QOL improved in all patients, no adverse drug effects were noted, and symptomatic benefit was maintained at follow‐up (mean = 19 months). The findings confirm that gabapentin is an effective treatment for OT, reducing both tremor and postural instability and improving quality of life, and support its use as add‐on or first‐line therapy for OT.

The association of sporadic inclusion body myositis and Sjögren's syndrome in carriers of HLA-DR3 and the 8.1 MHC ancestral haplotype

Sporadic inclusion body myositis (sIBM) usually occurs as an isolated condition, but it may occur in association with another autoimmune disorder such as Sjögrens syndrome. We reviewed sIBM cases with Sjögrens syndrome (sIBM/SS) from the Perth Inflammatory Myopathies Database to determine whether they are distinguishable from other sIBM cases. Six such cases were identified, representing 12% of all sIBM cases. Muscle biopsies confirmed the presence of an inflammatory myopathy with rimmed vacuoles and the characteristic muscle fibre inclusions of sIBM. Five of the six were females, contrasting with a 2:1 male preponderance in the rest of the sIBM cohort. The mean age-at-onset and the pattern of muscle weakness were similar in the two groups. Four out of five sIBM/SS patients treated with immune therapies had improvement in muscle strength lasting for 6-24 months, whereas only 27% of other sIBM patients improved. All 6 patients with sIBM/SS carried the HLA-DRB1*0301 allele, or its equivalent HLA-DR3 serological specificity, compared with 83% of other sIBM cases and all carried some or all of the major markers of the 8.1 MHC ancestral haplotype which is also associated with Sjögrens syndrome. Patients with sIBM/SS represent a subgroup of sIBM cases who are more likely to be female and carriers of HLA-DR3 and the 8.1 MHC ancestral haplotype, and are more likely to respond to treatment. The association of sIBM and Sjögrens syndrome is likely to be due to a common genetic predisposition linked to the MHC and supports the notion that sIBM has an autoimmune basis.

Globus pallidus stimulation in advanced Parkinson’s disease

Deep brain stimulation (DBS) of the globus pallidus internus (GPi) has become an accepted therapeutic modality in selected Parkinsons disease (PD) patients with severe levodopa-induced dyskinesias (LID) and on-off motor fluctuations. In comparison to subthalamic nucleus DBS there is a paucity of data on GPi DBS outcomes. We present our experience with a group of 20 PD patients (9 unilateral, 11 bilateral) who underwent GPi stimulation. PD motor symptoms were assessed using the Unified Parkinsons Disease Rating Scale (UPDRS) part III scores and subscores, and dyskinesia using the Abnormal Involuntary Movement Scale (AIMS), UPDRS part IVa, and clinical global impression (CGI). At mean follow-up time of 7 months, bilateral stimulation reduced off-period motor scores by a mean of 46% and on-period motor scores by 18%. Unilateral stimulation reduced off-period motor scores by 18%. Dyskinesia severity was reduced by 76%, which was maintained after a mean follow-up time of 35 months. Antiparkinsonian medication dosage was unchanged. No major adverse effects were seen. Unilateral and bilateral GPi DBS provides lasting benefit in PD patients with severe LID. Beneficial effects on off-period motor symptoms are greater with bilateral stimulation; however, with maintenance of dopaminergic medication, unilateral procedures can also provide important and sustained benefits.

Motor cortex reorganisation in Parkinson’s disease

Transcranial magnetic stimulation mapping of the motor cortical projection to the hand was performed in a group of patients with Parkinsons disease (PD) of variable duration to determine whether there is evidence of cortical reorganisation. Map shifts were found in the majority of PD cases (12/15), in untreated early cases as well as treated cases of longer duration, and there was a correlation between inter-side difference in the severity of PD symptoms (Unified Parkinsons Disease Rating Scale) and interhemispheric map displacement (r=0.60; P=0.018). These findings indicate that there is reorganisation of the corticomotor representation of the hand in PD, even at a relatively early stage of the disease, and suggest a dynamic process of reorganisation in the motor cortex due to an increase in the pallidal inhibitory inputs to the thalamo-cortical projections.

Paraspinal and scapular myopathy associated with scleroderma.

Objective: To describe a form of inflammatory myopathy with prominent involvement of the paraspinal and scapular muscles in patients with scleroderma. Methods: Review of clinical records, laboratory investigations, and muscle biopsies. Results: Patients presented with a “dropped head” resulting from weakness of the posterior cervical muscles (three cases) or camptocormia (“bent spine”) resulting from weakness of the paraspinal muscles (two cases) and variable weakness and atrophy of shoulder girdle muscles with mild or absent pelvic girdle involvement. Biopsies from the deltoid or paraspinal muscles showed myositis of variable severity and scleroderma vasculopathy in all cases. The response to prednisolone and cytotoxic agents was poor, but there was a good response to intravenous immunoglobulin therapy in one case. Conclusions: Patients with scleroderma may develop a restricted form of immune-mediated inflammatory myopathy with a predilection for the paraspinal and scapular muscles, which is poorly responsive to treatment with glucocorticoids and immunosuppressive agents and may require consideration of other treatment modalities.