A new walker with upper trunk suspension system for severely disabled patients.

We have recently designed a new type of walker for those severely disabled patients who cannot walk with commonly used medical walkers. A drawing and the description of this new walker is reported in order to permit the worldwide companies as well as artisans to develop and produce it for the people affected from severe motor problems. This walker supposes the patient wearing either a modified climbing harness or equipped clothes and being suspended to the walking frame. It consists in two series of bands suspending the patient from the frame; the upper one suspends him for the upper part of his trunk, the lower one by his pelvis. This walker is suggested for patients belonging to three principal groups: (1) Persons who have no trunk control (e.g.: patients affected by severe stroke or ataxias). (2) Persons whose walk is allowed only if they achieve a significant reduction (up to 30-40%) of the their body weight charging on trunk, spine, and lower limbs. (3) Persons who need a differentiated reduction of the body weight either among anterior and posterior side or among their right and left part of the body (hemiparesis, Parkinson disease, scoliosis, kyphosis). Creating this walker is easy; producing costs are low; there are no maintenance costs.

A case of epilepsia partialis continua of abdominal muscles after brain tumor surgery.

Epilepsia partialis continua (EPC) is a rare form of focal motor status epilepticus characterized by continuous muscular twitches or jerks involving a limited part of the body, usually facial region and distal limb. Although the cerebrovascular disease is known to be one of the most common causes of this condition, other reported cases with predominant abdominal involvement have different aetiologies, including, tumors, focal cortical dysplasia, and central nervous system infections. No cases of epilepsia partialis continua of the abdominal wall occurred after brain surgery have been previously reported. We describe the clinical, electrophysiological, and neuroimaging findings in an adult patient presenting with persistent unilateral abdominal myoclonus configuring an EPC as the evolution of a super-refractory hemibody convulsive status epilepticus, occurred after brain tumor surgery.

Subacute cerebellar ataxia as presenting symptom of systemic lupus erythematosus.

Neuropsychiatric manifestations are commonly observed in systemic lupus erythematosus (SLE) patients. In particular, neurological involvement is known to be more common in patients with positive anticardiolipin antibodies and lupus anticoagulants. Nevertheless, cerebellar ataxia has rarely been reported, especially as the first clinical manifestation of this systemic autoimmune disorder. Cerebral vascular infarction or ischemia, vasogenic oedema and antibody-mediated cerebral vasculopathy or vasculitic process have been supposed as possible aetiologies of acute cerebellar ataxia related to SLE. We report the clinical and radiological features of a woman who developed a rapidly progressive cerebellar syndrome as first sign of SLE; no other cause explaining her cerebellar ataxia was found. The patient improved after high-dose steroids. The appearance of a cerebellar syndrome with unknown aetiology with associated features of possible systemic autoimmune dysfunction, should be taken into account in clinical practice for appropriate diagnostic workup in order to provide effective therapeutic options.

Psychogenic convergence spasm mimicking ocular myasthenia.

A 14-year-old girl presented with a two-years history of fluctuating convergent strabismus, diplopia, and reading difficulty. She has been previously diagnosed by experienced neurologists as having ocular myasthenia and she had been treated for two years with anticholinesterase inhibitors and immunomodulatory drugs. After a thorough medical interview and neurological examination, a diagnosis of psychogenic convergence spasm was made. The patient was then reassured and the symptoms immediately disappeared. She also had psychotherapy and maintained a condition of sustained freedom from symptoms.

Selective serotonine reuptake inhibitors prevents emotional lability in healthy subjects.

BACKGROUND: Many subjects with depression and with brain lesions can poorly control their emotions with fits of weeping and tearfulness; neurological patients present outbursts of laughter as well. This condition is called Emotional Lability (EL). The antidepressant drugs of the family of selective serotonine reuptake inhibitors (SSRI) improve EL within a few days in both depressive and neurological disorders. EL can be present in healthy subjects as well, in whom it is considered as normal, although often embarrassing. METHODS: Two healthy subjects with EL, were treated with 20 mgs of Paroxetine or placebo for cycles of 5 days. Moreover the effect was observed of either Paroxetine or Fluoxetine on the emotion control of three patients with mood disorders both when they were depressed and after recovering from the depression. RESULTS: In all subjects, after few days of treatment, EL disappeared, and their emotion control and behaviour were both modified. CONCLUSIONS: (1) In healthy subjects EL is often embarrassing; the possibility is interesting of preventing it on selected occasions with a brief treatment with no side effects and a cheap cost. (2) SSRI are among the most used drugs in the word and every day they are assumed by millions of people including politicians, business man, soldiers, army commanders, policemen and criminals. The idea is very stimulating and highly worrying that the control of the emotions and behaviour of these million of people can be quickly modified by the assumption of one pill of SSRI for a few days or by its discontinuation.

Shifting of the blood T:B lymphocyte ratio in myasthenia gravis patients after thymectomy.

The immunologic role of thymus in human adults is still unclear, in a high percentage of patients with myasthenia gravis, improvement of the disease follows thymectomy. The biologic basis of this phenomenon is also unknown. We found that patients thymectomized for more than 9 months have a low percentage of T cells (mean 34 percent). The mean T cell percentage in control myasthenia gravis patients is 52 percent. Patients thymectomized for more than 18 and 24 months exhibit values of T cell percentage not lower than those of patients thymectomized for more than 9 months. Our results may be interpreted according to a humoral action of the thymus in regulating the percentage of T lymphocytes.

Facioscapulohumeral muscular dystrophy presenting isolated monomelic lower limb atrophy. Report of two patients with and without 4q35 rearrangement.

Facioscapulohumeral muscular dystrophy has a distinctive regional distribution but variable clinical expression and may be markedly asymmetrical. We report two patients presenting weakness and wasting confined to a single lower limb. Creatine kinase was slightly increased, electromyogram and muscle biopsy were myopathic. Muscle computed tomography showed normal shoulder, mid-arm, pelvic and mid-thigh scans but involvement of calf muscles. In both cases, weakness of facial and periscapular muscles was found in other family members unaware of the disease. Molecular analysis showed 4q35 deletion in one family. These cases broaden the presentation of facioscapulohumeral muscular dystrophy to include isolated monomelic atrophy of lower limb with calf muscle involvement.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

In 1995 Laing et al. (Am J Hum Genet 56(1995)422) described a single family with nine members affected by an autosomal dominant infantile onset distal myopathy. This family generated a LOD score of 2.6 for a locus on chromosome 14. We describe two families with an infantile onset distal myopathy: a new family with four affected members and the family previously described by Scoppetta et al. (Acta Neurol Scand 92(1955)122) in both of which haplotype segregation was compatible with linkage to the same chromosome 14 locus, generating LOD scores of 0.9 at a penetrance of 100% for the markers D14S283 and D14S64 (theta=0) in both families. The loci for autosomal recessive hereditary inclusion body myopathy and Nonaka myopathy on chromosome 9 and for autosomal dominant distal myopathy of Markesberry-Griggs and Udd on chromosome 2q31-33 were excluded by linkage analysis. The disease followed a uniform course with selective wasting of the anterior tibial muscles, starting in infancy and recognizable by a characteristic clinical sign of the 'hanging big toe'. This was followed by slow progression, with involvement of the finger and wrist extensor muscles in the third decade and proximal limb muscles in the fourth decade. Interestingly, we also found evidence of an accompanying mild peripheral neuropathy in the oldest individual with hypomyelination of numerous large myelinated fibres. In addition, this patient's muscle biopsy also showed autophagic vacuoles and numerous intranuclear tubulo-filamentous inclusions of 15-20 nm diameter. Given that all three families with infantile onset distal myopathy are compatible with linkage to the same locus on chromosome 14, this study supports evidence for, and enlarges the clinical and neuropathological spectrum of the distal myopathy on chromosome 14.

Neonatal myasthenia gravis: clinical and immunological study of seven mothers and their newborn infants.

We studied 7 mothers with myasthenia gravis (MG) and their infants. We confirmed that the development of neonatal MG was not related to the serum titer of maternal anti-acetylcholine receptor antibody (anti-AChR ab). To investigate the possibility that specific immunization of the newborn infant had occurred, serial serum determinations of total and 'specific' anti-AChR IgG and IgM were performed. We found that: the decay in total IgG was within the normal range in all the babies; there was a shorter half-life of 'specific' IgG, compared to total IgG, in 3 of the cases, 2 of which did have neonatal MG; no difference was found between the decay of anti-AChR ab in the babies who had neonatal MG and those who did not; there was no anti-AChR IgM-associated activity. Our data suggest that neonatal MG is due to maternal anti-AChR abs and that affected infants do not produce specific antibodies.

Myasthenia gravis in the elderly: report of 37 cases.

The treatment of myasthenia gravis in the elderly is controversial. Thirty-seven myasthenic patients with onset of the disease after the age of 60 were followed for a period of 14 years. All of the 37 patients received anticholinesterase drugs during this period, ten underwent thymectomy, and 24 were treated with corticosteroids. At present, one patient is in remission, 28 are improved, one is unchanged, and seven have died. Only one death was directly related to myasthenia. In the authors' experience thymectomy can be an effective treatment of myasthenia gravis in elderly patients; corticosteroid therapy can also be useful in addition to or as an alternative to surgery. Using a "personalized" schedule the authors obtained good results in 78 per cent of their patients.

Sporadic distal myopathy.

The sporadic distal myopathies are uncommon primary muscle diseases, the pathogenesis of which is still unclear. The inclusion body myositides are inflammatory myopathies, the distal form of which presents some features resembling those of sporadic distal myopathy. A case is reported of a patient showing features of both the first and the second forms.

Treatment of myasthenia gravis. Report on 139 patients.

In the treatment of myasthenia gravis (MG) considerable progress has recently been achieved. Our experience is based on the observation of 139 patients with an average follow-up of 3 years and 4 months. A treatment plan and results are presented. Indications for thymectomy: all cases of MG in adult life, apart from ocular myasthenia without radiological thymoma and without electrophysiological and pharmacological signs of generalization; before puberty only cases with radiological thymoma and severely incapacitating or life-threatening signs. Median sternotomy is preferable for thymoma, the transcervical approach with a sternal split for non-neoplastic thymus. Mediastinal radiotherapy is indicated after removal of an invasive or adhesive thymoma. Indications for corticosteroids: 1) before thymectomy: respiratory weakness; 2) soon after thymectomy: life-threatening signs; 3) later after thymectomy: incapacitating or life-threatening signs; 4) as an alternative to thymectomy: when surgery cannot be performed or it is not indicated. Oral Prednisone was nearly always preferred: alternate-day high single dose (75 to 115 mg) has given good results in most cases even if in some cases a small dose was required in the "off day"; inversely a lower alternate-day or daily dose was often sufficient. Long-term results: following this schedule for adult patients good results were scored in 67% of thymomas, in 94% of hyperplasias, and in 62% of unthymectomized patients: in prepuberal life the few cases of severe MG have all shown a favorable evolution.

When is there a full recovery for a myasthenia gravis patient?

A myasthenia gravis (MG) patient who seems to have recovered can later have recurrence of myasthenic signs. Clearly clinical remission does not always correspond to the normalization of all the factors involved in the pathogenesis of the disease. In ten patients who had apparently recovered from MG, electromyographic tests of repetitive supramaximal stimulation were performed and the anti-acetylcholine receptor (anti-AChR) antibody was assessed. In two of the ten patients all these tests were normal, thus showing lack of electromyographic myasthenic fatigability and the absence of circulating anti-AChR antibodies. Our hypothesis is that for these two subjects the risk of a recurrence of MG is lower than for the others.

Myasthenia gravis, thymectomy, and antiacetycholine receptor antibody.

The antiacetylcholine receptor antibody was titered in the serum of 63 patients with myasthenia gravis (MG) and 20 control healthy subjects. The titer was significantly high in 92% of MG patients in contrast with none of the controls and no correlation was found with the thymus pathology and the severity of the disease. The titer decreased after thymectomy almost steadily with the improvement of the myasthenic signs. The role of the antibody in the pathogenesis of the disease is discussed.

The lack of deep reflexes in myotonic dystrophy.

Clinical and electrophysiological observations have been carried out on 12 patients with myotonic dystrophy. Neurological examination showed that the tendon reflexes were absent or weak in almost all cases, whereas the cutaneous reflexes were normal. Examination of both deep and superficial sensibility gave normal results. Electromyography confirmed widespread "myopathic" activity and myotonic discharges were recorded on insertion of the needle electrode and at rest. Motor and sensory conduction velocity in the ulnar nerve and motor conduction in the peroneal nerve proved to be normal. Repetitive supramaximal nerve stimulation showed in 10 cases a decrease in potential amplitude, more evident at higher frequencies of stimulation. In the 2 other cases, by contrast, an increase in amplitude was observed, and this was suggestive of a partial presynaptic block. The jaw reflex was absent in 5 cases and reduced in amplitude in the 7 other cases. The results of blink reflex investigations were normal, with the exception of 2 cases where no early response was elicited. Spinal monosynaptic reflexes were absent in 7 cases after both electrical (H reflex) and mechanical stimulation (T reflex), whereas the response to direct stimulation of nerve motor fibres (the M response) was always present, even though reduced in amplitude. Such data lead one to reject the hypothesis that the absence of deep reflexes is due to pathological change in the muscle spindles. It seems more likely that the selective atrophy of Type 1 muscle fibres, known to be involved in deep reflex responses, is responsible for the early disappearance of the tendon reflexes.

The treatment of patients with myasthenia gravis.

Although there is general agreement among experienced physicians on the usefulness of different treatments for myasthenia gravis (MG), so many variations are possible that in practice, similar patients treated by different physicians rarely are treated the same. Because of these divergent opinions one may read papers in reputable journals that present and propose extremely variable programs for treating MG. Scientific controversies, although stimulating, often result in confusion, especially for less experienced physicians seeking treatment guidelines for their patients. This article offers the authors' opinions on the benefits and limitations of the therapeutic modalities used in MG and their proposals of therapeutic plans for specific situations.