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Lafora Disease
Myoclonic Epilepsy of Lafora; Progressive Myoclonus Epilepsy with Polyglucosan Bodies; Lafora Body D
Lafora disease (LD) is a rare genetic disorder that occurs in children or adolescents, resulting in progressive decline of mental function. It is a member of the family of diseases known as progressive myoclonus epilepsies (PMEs). PMEs are characterized by progressively worsening seizures. Lafora disease attacks the nervous system by inappropriately depositing sugars into cells of the brain (as...
Lamellar Ichthyosis (LI) is a rare, hereditary skin condition characterized by dry, thick, fish-like scaling of the skin. Ichthy means “fish” in Greek and lamellar means “thin layer.”
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Landau-Kleffner Syndrome
Acquired Epileptiform Aphasia
Landau-Kleffner Syndrome (LKS) is a rare form of childhood epilepsy associated with a specific cognitive decline (isolated loss of language skills) in children who have previously developed language normally. These children suddenly and unexpectedly lose the ability to understand speech ("word deafness"), and then have deterioration of previously acquired speech and language skills. ...
Langer-Giedion Syndrome
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type II (TRPSII) is a rare, inherited, genetic disorder that is characterized by craniofacial, skeletal, and central nervous system anomalies. Various structural abnormalities are the most consistent traits of this disease, yet there is the potential for a number of more serious complications.
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Laurence-Moon Syndrome
Adipogenital-Retinitis Pigmentosa Syndrome, Bardet-Biedl Syndrome,
Laurence-Moon-Biedle Syndrome,
Laurence-Moon syndrome (LMS), which was until very recently believed to be a separate disorder from Bardet-Biedl syndrome (BBS), is a rare, inherited disorder characterized by hypogonadism (the decreased production of sex hormones), retinitis pigmentosa (progressive loss of vision due to retinal problems), mental retardation, kidney abnormalities, obesity, spasticity of the lower body (paralysis o...
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