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Computed tomography shows multiple cerebral hematomas in a patient with acute myocardial infarction. Patient was subjected to thrombolytic therapy. (Contributed by Dr. Ravindra Kumar Garg.)
Jan. 12, 2021
Limb girdle muscular dystrophy (LGMD) is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation caused by a loss of muscle fibers. To be considered a form of LGMD the condition must be described in at least 2 unrelated families with affected individuals achieving independent walking, must have an elevated serum creatine kinase activity, must demonstrate degenerative changes on muscle imaging over the course of the disease, and have dystrophic changes on muscle histology, ultimately leading to end-stage pathology for the most affected muscles.
Jun. 21, 2021
Epilepsy & Seizures
Lennox-Gastaut syndrome is an epileptic encephalopathy characterized by multiple seizure types, slow spike-wave pattern on EEG, and cognitive deterioration, beginning in infancy or childhood. Tonic seizures, atonic seizures, atypical absences, and myoclonic seizures may occur. West syndrome or various genetic conditions may precede the condition.
Nov. 08, 2020
Spinocerebellar ataxia type 3 (SCA3) is the most commonly inherited autosomal dominant ataxia. It is mediated by an expanded triplicate nucleotide repeat that encodes for mutant ataxin-3 protein. Gait ataxia is the most common presenting symptom. SCA3 has a heterogeneous phenotype, including sensory or motor neuropathies, upper motor neuron signs, abnormalities in extraocular movements, dystonias, and parkinsonism.
Oct. 18, 2020
Hypoparathyroidism is an uncommon endocrine deficiency disease resulting from decreased function of the parathyroid glands, with underproduction of parathyroid hormone. It typically presents with manifestations of hypocalcemia because this interferes with normal muscle contraction and nerve conduction. Affected individuals can experience perioral and acral paresthesias, twitching in the facial muscles, muscle cramps, and tetany, but many also report fatigue, chronic headaches, insomnia, bone pain, and crampy abdominal pain.
Jan. 23, 2021
May. 30, 2021
Chorea describes a syndrome characterized by brief, abrupt involuntary movements resulting from a continuous flow of random muscle contractions. When choreic movements are more severe, assuming a flinging, sometimes violent, character, they are called ballism. Vascular disease of the brain is the most common cause of nongenetic chorea in adults.
Aug. 16, 2020
Excessive alcohol use may lead to withdrawal seizures, delirium tremens (DTs), Wernicke-Korsakoff syndrome, hepatic encephalopathy, peripheral neuropathy, cerebellar degeneration, and other complications. Excitotoxicity, free radical formation, and neuroinflammatory damage may underlie the neurodegenerative aspects of alcohol toxicity.