Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Treatment of neuropathic pain in neurology units. The PREVADOL study]. / Tratamiento del dolor neuropático en las consultas de neurología. Estudio PREVADOL.

INTRODUCTION: Neuropathic pain (NPP) is defined as a pain started or caused by an injury to or dysfunction of the nervous system. Its treatment is different to that of nociceptive pain since it does not respond to conventional analgesics or non-steroidal antiinflammatory drugs. AIM: To describe the treatment being received by patients with NPP in the daily clinical practice of the specialist in neurology. PATIENTS AND METHODS: An observational, epidemiological, cross-sectional study was conducted in 36 neurology units (24 extra-hospital and 12 belonging to hospitals). We collected the clinical data and the treatment administered to the first 20 patients with NPP to visit the neurology units over a period of 20 consecutive working days. RESULTS: Data were collected for a total of 451 patients with NPP. The pharmacological groups most frequently used in patients with NPP attended in neurology units are antiepileptics (71%) and antidepressants (15%). Of these patients, 60% were being treated with a single drug (an antiepileptic agent in 84.5% of cases; antidepressants in 10.3%). Two pharmacological treatments were being received by 23.7%, and 2.3% of patients were given treatment involving three or more pharmacological agents. A total of 30% received non-pharmacological treatments, especially physiotherapy (50.4%). CONCLUSIONS: Most patients with NPP attended in neurology units follow first-order pharmacological treatments (antiepileptics or antidepressants). Over half the patients are controlled with monotherapy, usually with an antiepileptic agent. Non-pharmacological treatments (especially physiotherapy) are used in a third of the patients.

[Amyotrophic neuralgia: review of 37 cases]. / Neuralgia amiotrófica: revisión de 37 casos.

INTRODUCTION: Amyotrophic neuralgia is characterized by pain of acute or subacute onset, accompanied by weakness and occasionally by atrophy of the brachial muscles, of unknown origin. We present our experience over the past 20 years. PATIENTS AND METHODS: We made a retrospective review of 37 patients with the above diagnosis, following the criteria of other series of such cases published in the literature. RESULTS: Twenty four of the patients were men and thirteen were women. The average age was 38 (11 to 71). A relevant clinical history was recorded in 9 cases; infection (5), surgery (4), remote trauma (3) and vaccination (1). There was a painful onset of the condition in 32 patients; objective weakness of the superior brachial plexus (30), inferior (5) or both (2). Atrophy was present in 23 and hypoaesthesia in 13. Two patients had fasciculations and 9 had hyperreflexia. In all patients electromyographic studies showed a neurogenic pattern of denervation of the muscles clinically affected. The severity of the condition was divided into mild (18), moderate (16) and intense (3). Prognosis was good in 24 and sequelae remained in 11. There were 2 bilateral cases and 2 relapses but no familial cases. CONCLUSIONS: There was a ratio of men/women of 1.8:1 and onset usually when the patient was in his forties. Mild infection, surgery, remote trauma and vaccination were the commonest clinical factors. Onset was painful in 85%. Muscular weakness was predominantly in the superior brachial plexus (85%), followed by atrophy in 62%. There was hypoaesthesia in a third of the patients. Most cases were mild (50%) and made a complete recovery (70%). Our findings are similar to those described in most series in the literature.

[Cardiac involvement in neuromuscular diseases]. / Repercusión cardíaca de las enfermedades neuromusculares.

Many neuromuscular disorders involve the heart, occasionally with overt clinical disease. Muscular dystrophies (dystrophinopathies, limb girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, Steinert's myotonic dystrophy), congenital myopathies, inflammatory myopathies and metabolic diseases (glycogenosis, periodic paralysis, mitochondrial diseases) may produce dilated or hypertrophic cardiomyopathy and heart rhythm or conduction disturbances. Furthermore the heart is commonly involved in some hereditary and degenerative diseases (Friedreich's ataxia and Kugelberg-Welander syndrome) and acquired (Guillain-Barré syndrome) or inherited (Refsum's disease and Charcot-Marie-Tooth syndrome) polyneuropathies. A cardiologist's high clinical suspicion and a simple but systematic skeletal muscle and peripheral nerve investigation, including muscle enzymes quantification, neurophysiological study and muscle biopsy, are necessary for an accurate diagnosis. In selected patients, more sophisticated biochemical and genetic analysis will be necessary. In most cases, endomyocardial biopsy is not essential for the diagnosis.

Controlled and uncontrolled thrombocytosis. Its clinical role in essential thrombocythemia.

Only two of 19 patients with spontaneously evolving essential thrombocythemia remained asymptomatic in a 421 patient-month observation. The rest of the patients showed hemorrhagic diathesis (four patients), nonspecific neurological semiology (two patients), and occlusive vascular illness in cerebral, myocardic, arterial, and often multiple locations (total, 12 patients). Peripheral neuropathy was found in five of 10 patients studied. In this series the incidence of cerebral ischemia in the uncontrolled condition was 180 times higher than the epidemiologic expectancy in a population not affected by the disorder. Of 35 ischemic attacks, 22 occurred when the platelet count was more than than 1000 X 10(9)/l, 13 when the count ranged from 650 to 990 X 10(9)/l, and none occurred at counts of less than 650 X 10(9)/l. In contrast, therapeutic control of the thrombocytosis caused all complications to disappear. These findings point out the danger of the natural course of the illness and justify active therapy. At the same time they call into question some of the most commonly used criteria in the diagnosis of essential thrombocythemia.