A. Cappellari

Limb immobilization for the treatment of focal occupational dystonia

Background: Occupational focal upper-limb dystonia is characterized by involuntary muscle contractions that selectively interfere with the execution of specific motor tasks such as writing or playing a musical instrument. Occupational dystonias have a severe social impact, especially in certain professions. The available medical treatments offer little benefit. Methods: In eight patients with idiopathic occupational focal dystonia of the upper limb, the dystonic forearm and hand were immobilized with a plastic splint for mean (±SD) 4.5 ± 0.75 weeks. Before splinting (base line) and at various intervals afterwards (4, 12, and 24 weeks), the authors assessed the severity of dystonia and the patients’ motor performance objectively (Arm Dystonia Disability Scale and Tubiana and Chamagne Score) and subjectively (Self-Rating Score). Results: Assessment 4 weeks after splint removal, when patients had regained normal voluntary movements, showed that the severity of dystonia and the patients’ performance of the impaired motor task had improved; the benefit persisted unchanged at later follow-up visits (Arm Dystonia Disability Scale: base line 20.6 ± 30.2%; after 4 weeks 83.9 ± 23.8%, p = 0.007; after 12 weeks 83.9 ± 23.8%, p = 0.007; after 24 weeks 79.7 ± 29.5%, p = 0.015. Tubiana and Chamagne Score: base line 28.6 ± 22.7%; after 4 weeks 80.0 ± 23.1%, p = 0.015; after 12 weeks 80.0 ± 23.1%, p = 0.015; after 24 weeks 74.3 ± 32.1%, p = 0.031. Self-Rating Score: base line 20.6 ± 19.3%; after 4 weeks 63.7 ± 25.2%, p = 0.015; after 12 weeks 66.9 ± 28.1%, p = 0.015; after 24 weeks 70.6 ± 31.8%, p = 0.015). At the 24-week visit the improvement disappeared in one patient, was moderate in three, and marked in four. Conclusions: Limb immobilization can be a simple, effective, safe, and inexpensive treatment for focal occupational upper-limb dystonia.

How long is IVIg effective in multifocal motor neuropathy

The authors treated 10 patients with multifocal motor neuropathy (MMN) responding to an initial course of IV immunoglobulin (IVIg) with periodic infusion for 5 to 12 years (mean 8.2 years). At last follow-up, only two patients had maintained the maximal improvement achieved during therapy while eight worsened despite increasing Ig dosage. This decline started after 3 to 7 years (mean 4.8 years) of therapy and correlated with a reduction of distal compound muscle action potential amplitudes (p < 0.019). The effectiveness of IVIg in MMN often declines after several years possibly associated with the development of axonal degeneration.

Deterioration of multifocal motor neuropathy after plasma exchange

We report a patient with motor neuropathy in whom plasma exchange (PE) was followed by a pronounced clinical worsening with the appearance of conduction blocks in previously clinically unaffected motor nerves, leading to the diagnosis of multifocal motor neuropathy (MMN). This report highlights the different response to therapy of MMN and chronic inflammatory demyelinating polyneuropathy (CIDP) because not only steroids but also PE, which is often effective in CIDP, do not improve and at times may even worsen MMN.

Long term effect of intravenous immunoglobulins and oral cyclophosphamide in multifocal motor neuropathy

Objectives—To report the long term effect of the combined treatment with high dose intravenous immunoglobulins (IVIg) and oral cyclophosphamide (CTX) in patients with multifocal motor neuropathy, and to determine whether the association of oral CTX in these patients may help to delay and, possibly, suspend IVIg infusions. METHODS Six patients with multifocal motor neuropathy responding to an initial course of IVIg (0.4 g/kg/day for five consecutive days) were followed up for 37 to 61 (mean 47) months. All patients were subsequently treated with periodic IVIg infusions (0.4 g/kg/day for two days at clinical worsening) and oral CTX (1-3 mg/kg/day). Improvement was assessed using the Rankin disability scale, a functional impairment scale for upper and lower limbs, and the MRC rating scale on the 20 most affected muscles. Electrophysiological and antiglycolipid antibody studies were performed before treatment, then yearly during follow up. RESULTS All patients improved during treatment and, by the end of follow up or before worsening after therapy suspension, the median Rankin (P=0.0335) and upper (P=0.0015) and lower limb (P=0.0301) impairment scores and the mean MRC (P=0.0561) score were improved. By that time the number of nerves with partial motor conduction block was reduced (P=0.0197) and antiglycolipid antibody titres had decreased in all but one patient. All patients required periodic IVIg infusions to maintain improvement but, after three to seven months of oral CTX, the interval between IVIg infusions could be progressively prolonged until, in three patients, both treatments could be stopped for up to two years before clinical worsening. The main complications, both related to oral CTX, were haemorrhagic cystitis in two patients and persistent amenorrhea in one patient. Conclusions—IVIg can induce and maintain improvement in multifocal motor neuropathy but does not eradicate the disease. Oral CTX may help to induce a sustained remission but it is not devoid of side effects and might therefore be reserved for patients with multifocal motor neuropathy who require frequent IVIg infusions to maintain improvement.

Multifocal motor neuropathy: clinical and immunological features and response to IVIg in relation to the presence and degree of motor conduction block

Objective: To determine whether patients with clinically typical multifocal motor neuropathy (MMN) with or without definite or probable conduction block (CB) differ in terms of clinical presentation, immunological findings, or response to treatment with intravenous immunoglobulin (IVIg). Methods: 23 consecutive patients were studied with the typical clinical features of MMN, consisting of a progressive multineuropathic motor impairment with minimal or no sensory loss. In 14 patients, electrophysiological studies disclosed the presence of a definite or probable CB according to the criteria proposed by the American Association of Electrodiagnostic Medicine (AAEM) in at least one motor nerve. Six patients had possible CB, defined as a degree of CB 10% less than that required by the AAEM for probable CB, while no CB was detected in three patients. Results: Patients with possible CB did not differ from those with a definite or probable CB in terms of age at disease onset (mean 38.8 v 38.2 years, respectively), distribution and severity of limb weakness, clinical impairment (mean Rankin score 2.2 in both), and frequency of antiganglioside antibodies (33% v 29%). Patients with possible CB had a longer mean disease duration (9 v 5.9 years, p < 0.05) and a less frequent consistent response to IVIg (67% v 86%) than those with a definite or probable CB. Patients without a detectable CB had a similar frequency of antiganglioside antibodies (33%) but had a longer disease duration (20.3 years), greater impairment (Rankin score 2.7), and more frequent signs of axonal degeneration (41% of examined motor nerves) than patients with CB (13–15%, p < 0.005). Only one patient without detectable CB (33%) consistently improved with IVIg. Conclusions: Patients with possible CB were clinically and immunologically indistinguishable from those with definite or probable CB, albeit with a slightly less frequent response to IVIg. This finding suggests that failure to fulfil AAEM criteria for CB in patients with otherwise clinically typical MMN should not preclude this diagnosis and consequently a treatment trial with IVIg. Whether the longer duration and greater severity of the disease and more frequent axonal impairment in patients without detectable CB than in those with CB explain their lower response to IVIg remains to be established.

γ-Hydroxybutyric acid for alcohol-sensitive myoclonus with dystonia

Alcohol-sensitive myoclonus can be associated with dystonic spasms.1 Conventional treatments and anticonvulsants occasionally produce some benefit, but not comparable with the improvement induced by alcohol.1 We report a patient with alcohol-sensitive myoclonus and dystonia who had a consistent and substantial benefit from oral γ-hydroxybutyric acid (GHB). Oral GHB is a drug that is effective both in the treatment of alcohol withdrawal2,3 and in maintaining abstinence from alcohol.4 A 37-year-old man was evaluated for severe disabling myoclonic jerks of the upper limbs, axial muscles, neck and cranial muscles, which were associated with dystonic spasms of the upper limbs and of the neck muscles. According to the Chadwick–Marsden Evaluation Scale for myoclonus,5,6 the patient’s score was 26 points. The hyperkinesias were not stimulus sensitive. They worsened under emotional stress and during the day, but the patient could control involuntary movements …

A tentative interpretation of electromyographic regional differences in bulbar- and limb-onset ALS

Article abstract Electromyography (EMG) could be useful in defining regional motor neuron vulnerability in ALS. We performed EMG in 36 sporadic ALS patients (9 with bulbar-onset and 27 with limb-onset symptoms). Active denervation was more frequent in limb than in corresponding paraspinal muscles, in the thoracic paraspinal, and in the bulbo-cervical muscles in patients with bulbar-onset symptoms. These results are consistent with a regional motor neuron vulnerability along with a nerve length-dependent liability.

Stem cell salvage of injured peripheral nerve

We previously developed a collagen tube filled with autologous skin-derived stem cells (SDSCs) for bridging long rat sciatic nerve gaps. Here we present a case report describing a compassionate use of this graft for repairing the polyinjured motor and sensory nerves of the upper arms of a patient. Preclinical assessment was performed with collagen/SDSC implantation in rats after sectioning the sciatic nerve. For the patient, during the 3-year follow-up period, functional recovery of injured median and ulnar nerves was assessed by pinch gauge test and static two-point discrimination and touch test with monofilaments, along with electophysiological and MRI examinations. Preclinical experiments in rats revealed rescue of sciatic nerve and no side effects of patient-derived SDSC transplantation (30 and 180 days of treatment). In the patient treatment, motor and sensory functions of the median nerve demonstrated ongoing recovery postimplantation during the follow-up period. The results indicate that the collagen/SDSC artificial nerve graft could be used for surgical repair of larger defects in major lesions of peripheral nerves, increasing patient quality of life by saving the upper arms from amputation.

A cortically blind patient with preserved visual imagery.

Background/ObjectiveThe loss or preservation of visual imagery in patients with cortical blindness may be helpful in resolving the controversial roles assigned by some researchers to the early visual cortex during the process of visual imagery. Patient and MethodsHere we report a patient with complete permanent cortical blindness coupled with denial of the blindness (Anton syndrome) as a result of bilateral occipital infarction. ResultsInterestingly, the patients ability to visualize objects, color, and spatial imagery was preserved, although cerebral computed tomography, magnetic resonance imaging, and positron emission tomography scans detected what was likely complete bilateral damage to the primary visual cortex. ConclusionsOur findings may support the hypothesis that the primary visual cortex, in which retinal spatial geometry is preserved, is not critical for visual imagery.

Electrophysiological study of medial and lateral branches of the superficial radial nerve

Introduction: In this study we sought to establish a new technique for nerve conduction study (NCS) of medial and lateral branches of the superficial radial nerve (SRN). Methods: Antidromic NCS were performed on 60 healthy subjects, recording the sensory nerve action potential (SNAP) from the dorsomedial and dorsolateral aspects of the phalanx of the thumb. The main trunk of SRN was also investigated. Results: SNAPs were easily recorded in all subjects, and normative latency and amplitude data were collected. Conclusions: We propose a simple and reliable technique to investigate nerve conduction of the terminal branches of the SRN, which could be useful in some focal and systemic pathologies. Muscle Nerve, 2013