Congenital Muscular Dystrophies (CMD) Congenital muscular dystrophies constitute a genetically heterogeneous group of hereditary myopathies characterized by progressive muscle weakness and dystrophic findings in muscle biopsy present from birth or early childhood. Main Classification Merosin Deficiency (LAMA2-RD): Caused by mutations in the LAMA2 gene. It presents with marked hypotonia and delay…
Category archives: Neurological diseases
M-wave, H-wave, F-wave.
Concepts of Nerve Conduction: M Wave, H Wave and F Wave In the study of electromyography (EMG) and nerve conduction velocity, these three waves represent different physiological responses to electrical stimulation: M Wave: It is the direct motor response obtained by stimulation of the motor axon. It represents the direct orthodromic depolarization of the fibers...
Reiber diagram
Reiber Diagram The Reiber Diagram is a graphic tool designed to analyze the behavior of immunoglobulins (IgG, IgA or IgM) in the cerebrospinal fluid (CSF) and distinguish whether their presence is due to intrathecal synthesis (within the central nervous system) or to a dysfunction of the blood-brain barrier. It was developed by…
Hypoxicoischemic encephalopathy and MRI
Resonancia Magnética (RM) en la Encefalopatía Hipoxicoisquémica (EHI) La resonancia magnética cerebral es el método de elección para valorar la localización, severidad y pronóstico del daño cerebral secundario a un evento de asfixia perinatal. Patrones Principales de Lesión Patrón de Ganglios Basales y Tálamo: Este patrón es típicamente asociado con asfixias agudas y profundas. Afecta …
Panayitopoulos
Panayiotopoulos Syndrome (Benign Occipital Epilepsy of Childhood) Panayiotopoulos syndrome is a common benign idiopathic focal epilepsy of childhood that typically presents between 3 and 6 years of age. Main Characteristics Autonomic crises: The crises consist predominantly of autonomic symptoms such as nausea, emetic vomiting, paleness, mydriasis and incontinence. Duration …
Myelin in the CNS and PNS.
Myelin in the Central Nervous System (CNS) vs. Peripheral Nervous System (PNS) Myelin is a protein-rich lipid sheath that covers and electrically insulates neuronal axons to facilitate the rapid transmission of action potentials. Myelin in the CNS: Produced and maintained by oligodendrocytes. A single oligodendrocyte can myelinate up to…
