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The congenital mirror movements begin in infancy and persist throughout the patient's life, often with very little improvement, or deterioration. [3] Consequently, patients with this movement disorder have serious difficulty carrying out tasks that require manual dexterity or precision, such as playing a two handed musical instrument or typing ...
Ulnar dimelia, also referred to simply as mirror hand, is a very rare congenital disorder characterized by the absence of the radial ray, duplication of the ulna, duplication of the carpal, metacarpal, and phalanx bones, and symmetric polydactyly.
Movement disorders are clinical syndromes with either an excess of movement or a paucity of voluntary and involuntary movements, unrelated to weakness or spasticity. [1] Movement disorders present with extrapyramidal symptoms and are caused by basal ganglia disease . [ 2 ]
Around 11 gene targets have been specified.(reference 3) Its prevalence in the population is very difficult to measure since it is a rare genetic disorder that presents itself as a neuromuscular junction disorder, but in the United Kingdom, estimates are 1 in 200,000 of the population.(reference 29) The major signs that indicate a congenital ...
Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
Congenital myopathy is a very broad term for any muscle disorder present at birth. This defect primarily affects skeletal muscle fibres and causes muscular weakness and/or hypotonia. Congenital myopathies account for one of the top neuromuscular disorders in the world today, comprising approximately 6 in 100,000 live births every year. [1]
neuritis, compression disorders 'DTP' – distal tingling on percussion Todd's paresis: Robert Bentley Todd: neurology: seizure disorders: focal weakness for as much as 48 hours after seizure Traube's sign: Ludwig Traube: various: splenomegaly: dull percussion sound over Traube's space: Trendelenburg's sign: Friedrich Trendelenburg: neurology
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).