Multifocal motor neuropathy mimicking motor neuron disease: nine cases.

Multifocal motor neuropathy with persistent conduction block (MMN) is a rare clinical entity, mimicking motor neuron disease (MND). In order to research which are the most frequent nerves and segments where conduction block (CB) can be identified, we reviewed the clinical and neurophysiological data of nine patients with MMN who were studied and followed by the authors. Weakness and muscle atrophy of the dominant hand was the most frequent presentation. Lower limbs were involved later in the disease evolution. The ulnar and median nerves were the most affected nerves. They had conduction blocks mostly at the forearm and at Erb's point-elbow (or above elbow) segments. Both common peroneal and tibial nerves were frequently affected at their distal segments, but proximal segments were also probably involved. The presence of anti-GM1 antibodies was variable, and their determination was not essential for the diagnosis of MMN. Eight patients given IV immunoglobulin therapy had no disease progression. One patient was responsive to corticosteroids. The CB identification in our patients allowed us to clearly distinguish MMN from MND. The good prognosis and need for management with IV immunoglobulin, support the crucial role of a careful neurophysiological study to diagnose this clinical entity.

Respiratory assistance with a non-invasive ventilator (Bipap) in MND/ALS patients: survival rates in a controlled trial.

Noninvasive ventilatory assistance, in ALS patients, with the bilevel intermittent positive air pressure (Bipap) was studied, in a prospective and controlled trial, by the authors. Twenty ALS bulbar patients, fulfilling El Escorial criteria for probable or definite disease, were selected. For the follow-up all patients were submitted to evaluation with the Norris scale, modified Barthel score and an analog scale of life satisfaction, every 3 months. All patients were also submitted to respiratory functional testing (RFT). Ten of these patients were treated with palliative management (group I), the remaining ten patients received Bipap support (group II). Clinical evolution curves and clinical parameters were not statistically different in both groups, except for the percentage of actual predicted value of vital capacity (p < 0.03), showing a more advanced disease in group II patients. Analog scale of life satisfaction showed improvement in the group II, even after the beginning of respiratory insufficiency, though without significance probably due to the small sample size (p < 0.1). Since 6 patients in group II are still alive survival rates were compared with log rank test considering cumulative survivals with Kaplan-Meier estimates. Total survival and survival from diurnal abnormalities in gas exchange (survival 1) were significantly longer for group II (p < 0.006 and p < 0.0004, respectively). In spite of the small number of patients, preliminary results strongly support the importance of BIPAP in ALS patients, though further studies must go on in order to optimize the best time for introducing Bipap.

Reflex sympathetic dystrophy associated with amyotrophic lateral sclerosis.

Reflex sympathetic dystrophy (RSD) is a syndrome characterised by severe distal pain and vasomotor changes. It is believed to be caused by sympathetic nervous system overactivity. Trauma is the most frequent precipitant event. An association with amyotrophic lateral sclerosis (ALS) has been reported only once. We report three patients with ALS in whom the occurrence of RSD, in one of them at a very early clinical stage, seemed to have precipitated a more rapid clinical evolution. New sprouting re-innervating fibres have abnormal ion channels which might increase the risk of RSD. On the other hand, motor changes have been described in RSD, as well as motor strength improvement after RSD treatment. The complex relation of ALS with RSD is discussed. In all ALS patients pain followed by further loss of function should prompt a search for RSD.

Can amyotrophic lateral sclerosis patients with respiratory insufficiency exercise?

The authors have shown in a recent paper that survival with amyotrophic lateral sclerosis (ALS) can be increased by the use of non-invasive methods of assisted ventilation (Bipap). However, the progression of muscle weakness was not affected and the quality of life was not positively enhanced. In ALS, reduced physical activity may partially be secondary to alveolar hypoventilation syndrome. This leads to deconditioning of ALS/motor neuron disease (ALS/MND) patients. The authors decided to investigate the possibility of reducing motor decline by exercising these patients to the anaerobic threshold, but simultaneously compensating the respiratory insufficiency with the Bipap STD. We conducted a controlled single blind study, exercising eight consecutive ALS/MND patients and used a control group of 12 ALS/MND patients. The patients were all evaluated during a 1 year period. Respiratory function tests (RFT) were performed at entry and then at 6 month intervals. Barthel, Functional Independent Mobility scale (FIM) and Spinal and Bulbar Norris scores were recorded every 3 months. There was a significant difference between the two groups with respect to FIM scores (P<0.03), but not Barthel scores (P<0.8). A slower clinical course (Spinal Norris score P<0.02) and a significant difference in the slope of the RFT (P<0.008) were observed in the treated group, suggesting that exercise may be beneficial in ALS patients once Bipap is used to control peripheral and muscle oxygenation.

[Relationship between parenteral gangliosides administration and the Guillain-Barré syndrome]. / Relación entre la administración parenteral de gangliósidos y el síndrome de Guillain-Barré.

OBJECTIVE: We carried out a case a case-control study to analyze the relationship between parenteral gangliosides administration and the Guillain-Barré syndrome. PATIENTS AND METHODS: We retrieved 64 patients with the diagnosis of Guillain-Barré syndrome, and 148 controls. In cases and controls the proportion and 95% confidence intervals (CI) of subject receiving gangliosides, was calculated. The number of patients with the Guillain-Barré syndrome who needed ventilation or died was also calculated. RESULTS: Four of 36 patients (95% CI = 81-0.6), over 40 years, received gangliosides prior to Guillain-Barré syndrome. One of these patients was ventilated (95% CI = 25-2) and died. None of the controls less than 40 years old took gangliosides, while from the 108 over 40 (95% CI = 15-4) 9 received gangliosides. None developed signs suggesting Guillain-Barré syndrome. Although gangliosides were more often used in Guillain-Barré syndrome (OR = 1.75), the difference was not significant (95% CI = 4.82-0.69). CONCLUSION: The present work proves that in spite of the association of Guillain-Barré syndrome, with gangliosides intake, there is no statistical difference between this group of patients and control population.

[Neurophysiologic study of the phrenic nerve]. / Estudo neurofisiológico do nervo frénico.

Phrenic nerve conduction was studied in 19 volunteers using two different percutaneous methods of stimulation, mono and bipolar. A response was obtained in all nerves studied. The results are comparable using mono or bipolar stimulation method. No significant difference in latency, amplitude, or intensity stimulation applied was found between left and right sides. There was no correlation of age or height with the latency. Latencies above 10 ms or differences between right and left above 1.6 ms are abnormal values. We studied two patients with neurological disorders, one of them with Guillain-Barré syndrome and the other with a bulbar form of Amyotrophic Lateral Sclerosis and respiratory failure. Both of them had prolonged conduction time. This method permits reliable analysis of localized phrenic lesions and abnormalities induced in either the phrenic nerveor diaphragm by generalized disease processes.

The corticomotor threshold is not dependent on disease duration in amyotrophic lateral sclerosis (ALS).

INTRODUCTION: It is suggested that early in ALS the corticomotor threshold (CMT) is low, but increases with increasing duration of the disease. POPULATION AND METHODS: We compared CMT, central conduction time and motor-evoked response/M-wave amplitude in two populations of ALS patients: one with disease duration shorter than 6 months (Group A, 11 patients) and another who had had the disease for more than 24 months (Group B, 14 patients). These two groups were compared with a control group of 30 subjects. In all the ALS patients, abductor digiti minimi (ADM) strength was greater than MRC 3. RESULTS: M-wave amplitude was comparable in the three groups. We found no difference between the three groups in these transcranial magnetic stimulation studies and there was no correlation between disease duration time and CMT. CONCLUSION: We did not confirm a relation between CMT and disease duration. An increased CMT late in the disease progression is associated with greater lower motor neuron loss, and greater corticospinal tract degeneration with dispersion of the descending motor volley.

Sympathetic sudomotor function and amyotrophic lateral sclerosis.

INTRODUCTION: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neuron cells in the cerebral cortex, brain stem and spinal cord. Autonomic nervous system involvement is not a recognized feature of the disease; nonetheless, autonomic dysfunction has been reported in severely affected patients. The aim of this study was to evaluate sympathetic sudomotor function in ALS patients, employing the sweat imprint test. METHODS: Twenty-four ALS patients and 25 controls, matched for sex and age, were included. In total, 34 hands and 35 feet in controls, and 29 hands and 30 feet in the ALS population, were investigated. RESULTS: No inter-side difference was found in controls or in ALS patients. The mean number of sweat drops/cm2 was comparable in both populations. However, six ALS patients had a lower count on the hand than on the foot, which was never observed in controls. Furthermore, in the ALS population, five hands and three feet showed values below the lower limit of normal. The abnormalities were more frequent in very weak limbs, and could be ascribed to lack of use. CONCLUSION: Although significant sudomotor hypofunction does not occur in ALS, mild subclinical changes can be observed in weak limbs.

Standards of palliative care for patients with amyotrophic lateral sclerosis: results of a European survey.

BACKGROUND: Amyotrophic lateral sclerosis (ALS) may be viewed as a paradigmatic disease for palliative care in neurodegenerative disorders. However, standards of care for ALS are known anecdotally to differ between and even within countries. METHOD: A survey was conducted among the members of the European ALS Study Group on standards of palliative care in the clinical management of patients with ALS and their families, by means of a questionnaire of 111 questions in the following areas: giving the diagnosis, treatment of symptoms, nutrition, community services, respiratory support, and terminal care. Of 110 questionnaires sent out, 73 (66%) were completed and returned from 18 countries, including all major ALS centres in Europe. RESULTS: The main areas of consensus included: presenting the diagnosis in the presence of a relative (85%) and offering a short-term follow-up (90%), regular weight checks (82%), availability of percutaneous endoscopic gastrostomy (PEG) (94%), and discussion of respiratory issues (90%). The main differences between centres concerned symptomatic drug treatment, availability of services, ventilation and terminal care. An additional survey shows considerable interest by the centres in palliative care trials. CONCLUSION: Great efforts are made by the centres to offer the best possible palliative care to ALS patients. The discrepancies in the type of care offered might be resolved by adopting common standards, on the basis of available evidence and mutual consensus. Several areas of ALS patient care would benefit from controlled studies to establish an evidence base for treatment decisions.

Correlation between clinical, electromyographic and dysautonomic evolution of familial amyloidotic polyneuropathy of the Portuguese type.

To assess the correlation between the severity of clinical symptoms and sensorymotor and autonomic function in familial amyloidotic polyneuropathy of the Portuguese type (FAP-PT), clinical grade (CG), electromyographic score (ES), sympathetic (SS) and parasympathetic score (PS) were compared in 47 patients. SS and PS were both abnormal in 72% of patients with ES = 0% and in 73% of patients with CG = 0. When SS and PS were compared with either CG and ES, PS progressed more rapidly and stabilized earlier than SS. As a whole, SS and PS were greater as CG and ES were higher. This pattern of autonomic involvement should be taken into account when assessing the course of the disease and evaluating new forms of therapy.