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From The Semiology To The Diagnosis: Recognizing Phenotypes

Neuromuscular phenotypes that the need to be recognized
Juliana Gurgel-Giannetti

Neuromuscular diseases (NMD) are classified according to the anatomic structure of the motor unit:disease of the anterior horn cell, which is referred as neuronopathies, of the nerves as neuropathies, of the neuromuscular junction as neuromuscular transmission disorders and of the myofiber as myopathies. Most of these diseases present a genetic cause specially in childhood. Clinically the patients can present earlier as a floppy infant or later with limb girdle weakness syndromes. The distribution of the weakness in different body segments is an important step to identify specific phenotypes. Also, some specific clinical features and signs related to the topography of NMD can orient the clinician during the patient evaluation, but they need to be actively sought as fasciculations, polymioclonus, myotonia, signs of fatigability, types of gait. Based on a detailed semiology, specific phenotypes can be recognized, and it will be the first step to direct the investigation with adequate laboratorial exams and genetic tests allowing an early and definitive diagnosis. Nowadays the early diagnosis is essential since some NMD can be treat with specific medications ( ex. congenital myasthenic syndromes) or new therapies ( including genetic therapies) that may modify the natural history of the disease ( ex. SMA). Thus, an early diagnosis allows to start an optimized treatment to bring better quality of life for patients, and genetic counselling for families.

Epileptic and non-epileptic paroxysmal events
Marilisa Guerreiro

This session will provide the opportunity for the audience to recognize the most common types of epileptic and non-epileptic events. The differential diagnosis between epileptic and non-epileptic events is challenging task even for specialists. A detailed history, the report of witness and home videos recordings are the main tools to characterize and define whether a paroxysmal event is epileptic or non-epileptic. Early recognition is of high importance to avoid both under and over diagnosis. The implication of a wrong diagnosis is clear since epileptic seizures often require specific treatment, which does not happen with non-epileptic events. Antiseizure medications may cause side effects, which can unnecessarily jeopardize the health of children. In several countries, primary and secondary care are often delivered by pediatricians and/or family doctors that are not used to identify these events and can delay the diagnosis. An early identification is crucial to avoid unnecessary investigation and treatment.

Movement disorders in childhood (Paroxysmal dyskinesia)
Emmanuel Flamand-Roze

Paroxysmal dyskinesia may be inherited or symptomatic of an acquired disorder. Emerging phenotypic pleiotropy is paralleled by the identification of considerable genetic heterogeneity. Paroxysmal dyskinesia could now be seen as a network disorder, in which either primary striatal dysfunction or aberrant cerebellar output conveyed to the striatum results in the phenotype. As the clinical and genotypic spectrum of these disorders evolves, so also has the range of therapeutic options. Careful clinical phenotyping is thus needed to ensure diagnostic precision and timely initiation of therapies when appropriate. Diagnostic strategy follows a stepwise approach. The first step is to look for features suggesting symptomatic paroxysmal MDS. If a symptomatic MDS is suspected, a comprehensive work-up is often warranted, keeping in mind important treatable conditions not to be missed including metabolic disorders, immune-mediated, vascular disorders, and demyelinating diseases. The second step is to discuss a possible functional paroxysmal MDS based on positive features supporting this diagnosis. The last step is to collect clues from the patient’s history and clinical manifestations to narrow down the diagnosis and guide genetic testing, taking into account the possibility of clinical or genetic overlap. Special attention should again be paid to treatable disorders such as GLUT1-deficiency, PRRT2- or ADCY5- GCH1 related paroxysmal dystonia/dyskinesia.

Cerebral Palsy (CP) and conditions that simulate CP
Arushi Gahlot Saini

Cerebral palsy (CP) is a common neurological disorder affecting about 2–3 per 1000 children. Children with CP have a motor disability characterized by spasticity, dystonia or both, and sometimes ataxia with hypotonia. Since CP is essentially a clinical diagnosis, it is very important to be aware of the classical clinical findings and the semiology of various tone and movement abnormalities that are seen under this broad term. There are several mimic of the various subtype of CP, such as leukodystrophies often mimic spastic cerebral palsy, neurometabolic disorders affecting the basal ganglia often mimic the dyskinetic forms of cerebral palsy, and various cerebellar disorders mimic the ataxic forms of CP. In the common clinical practice, it is important to recognize the salient clinical signs of each of these disorders and identify the red flags to sort out the mimics. The speaker will focus on these case-based scenarios to highlight these aspects, and the videos will help to delineate the types of tone abnormality and movement disorder related to CP and its mimics.

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From the semiology to the diagnosis: recognizing phenotypes

Juliana Gurgel-Giannetti