Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy. / Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne.

INTRODUCTION: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. DEVELOPMENT: We performed a literature search of the main biomedical databases for articles published in the last 10years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. CONCLUSIONS: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies.

Clinical guidelines for late-onset Pompe disease.

Before 2006, Pompe disease or glycogenosis storage disease type II was an incurable disease whose treatment was merely palliative. The development of a recombinant human alpha-glucosidase enzymatic replacement therapy has become the first specific treatment for this illness. The aim of this guide is to serve as reference for the management of the late-onset Pompe disease, the type of Pompe disease that develops after one year of age. In the guide a group of Spanish experts make specific recommendations about diagnosis, follow-up and treatment of this illness. With regard to diagnosis, the dried blood spots method is essential as the first step for the diagnosis of Pompe disease. The confirmation of the diagnosis of Pompe disease must be made by means of an study of enzymatic activity in isolated lymphocytes or a mutation analysis of the alpha-glucosidase gene. With regard to treatment with enzymatic replacement therapy, the experts say that is effective improving or stabilizating the motor function and the respiratory function and it must be introduced when the first symptoms attributable to Pompe disease appear.

[Migraine with aura, right-to-left shunt and frequency of seizures]. / Migraña con aura, shunt derecha-izquierda y frecuencia de crisis.

INTRODUCTION: The high prevalence of patent foramen ovale in migraine with aura (MWA) seems to be well established; yet, the possible relation between the magnitude of the right-to-left shunt (RLS) and MWA is not so clear. As a hypothesis, if the RLS played a precipitating role, subjects with a larger degree of shunt might experience a higher number of seizures. We examine this possible relationship between the magnitude of the shunt and the incidence of seizures. PATIENTS AND METHODS: We examined a series of 72 patients with MWA to obtain the frequencies of seizures (dividing them into three groups of increasing frequency), history and precipitating factors. The presence and magnitude of the RLS were later determined by means of transcranial Doppler ultrasonography, following a method that had previously been validated. Univariate analysis was then used to evaluate the possible association between the magnitude of the shunt and the frequency of seizures. RESULTS: The mean age was 36 years. RLS appeared in 44 patients (61.1%) and followed a 'shower/curtain' pattern in 38% of cases. Frequency of seizures was low in 27%, medium in 45% and high in 27% of patients. Frequency was not associated with the magnitude of the shunt even when only high-frequency cases were considered. High frequency was associated, however, with certain precipitating factors. CONCLUSIONS: Our study confirms the existence of a high prevalence of RLS in patients with MWA, but no association was found between the magnitude of the shunt and the frequency of the seizures. As discussed here, these findings are partly at odds with a 'threshold' type of association or mechanism that precipitates seizures.

Incidence of and risk factors for neurologic complications after heart transplantation.

INTRODUCTION: Following heart transplantation (HT), neurologic complications occur in 50% to 70% of patients, mostly in the perioperative period. The objective of our study was to analyze the frequency and impact of factors related to the development of neurological complications after HT. MATERIALS AND METHODS: HT patients with survival greater than 1 month (November 1987 to May 2003) were included. Heart-lung transplants, retransplants, and pediatric patients were excluded. Neurologic complications were defined as a neurologic event requiring hospitalization or detected in the hospital. Groups included ischemic or hemorrhagic stroke, seizures, neurotoxicity or other complications (e.g., infections, headaches, Alzheimer's). RESULTS: We assessed 322 HT patients (87.6% men, 12.4% women) and grouped them according to the presence of neurologic complications during follow-up. There were no differences in the baseline characteristics between the two groups. Of patients the patients studied, 13.7% suffered a neurologic complication: ischemic stroke (3.5%), neurotoxicity (2.9%), seizures (1.9%), and other complications (1.6%). Only two cases of hemorrhagic stroke (0.6%) were observed. Associations with pretransplant risk factors included seizures with diabetes mellitus (OR, 6.54; 95% CI, 1.28 to 33.6, P = .024), seizures with renal failure (OR, 5.95; 95% CI, 1.03 to 34.3; P = .046), and ischemic stroke with prior valvular disease (OR, 4.96, 95% CI, 1.22 to 20.1; P = .045). Associations with pretransplant risk factors were neurologic complications with the number of infections (OR, 1.35, 95% CI, 1.05 to 1.73; P = .02). No differences were found in survival of patients with neurologic complications. CONCLUSIONS: The incidence of neurologic complications in our series was 13.7%. The most frequent neurologic complication was ischemic stroke. Valvular disease as the underlying disease was associated with ischemic stroke. Diabetes mellitus and renal failure were associated with seizures. The number of posttransplant infections was associated with neurologic complications. There were no differences in survival of patients with neurologic complications.

[Nonsystemic vasculitic neuropathy]. / Neuropatía vasculítica no sistémica.

BACKGROUND: Nonsystemic vasculitic neuropathy (NSVN) is an infrequent type of vasculitic neuropathy that evolves without manifestations of vasculitis in other organs and in the absence of serological abnormalities. There are non clarified conjectures about the pathogenesis, outcome and treatment approach. PATIENTS AND METHOD: A retrospective study of a series of six patients diagnosed of NSVN during a period of 12 years. Clinical, electrophysiological and pathological features, as well as the response to therapy and outcome are analysed. RESULTS: Four cases presented with a pattern of multiple mononeuropathy, evolving towards a symmetrical sensory and motor polyneuropathy in two of them. One patient presented with an acute sensory neuropathy and another had a subacute asymmetric sensory and motor neuropathy. No signs of accompanying systemic vasculitis were observed during the follow-up (mean 35 months) and the only outstanding serological abnormality was the presence of antibodies against hepatitis B virus in four of them. The nerve conduction studies showed typical features of axonal degeneration. The diagnostic was obtained due to the presence of a necrotizing vasculitis in the sural nerve biopsy in all cases. The mean time from symptom onset to diagnosis was 11 months. All patients were treated with immunosuppressive therapy presenting a favourable response, except the case of the sensory neuropathy that remained stable. CONCLUSIONS: NSVN is a benign type of vasculitic neuropathy with a variable clinical pattern of presentation and favourable response to immunosuppression. This neuropathy requires a high index of suspicion for diagnosis, so nerve biopsy must be carried out in all neuropathy of unknown etiology. Careful follow-up of patients is necessary, so that life-threatening systemic vasculitis neuropathy can be diagnosed early.