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Glossary for Ceroid lipofuscinosis, neuronal 2, late infantile type

  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • Death: The cessation of life
  • Degenerative conditions: Diseases characterized by a progressive and degenerative decline.
  • Drop attacks: sudden spontaneous falls while standing or walking, with complete recovery in seconds or minutes.
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Infant health conditions: Medical conditions typically affecting infants (including newborns and babies under one year old).
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • Movement disorders: Medical conditions affecting the movement systems, such as walking or tremor.
  • Muscle conditions: Any condition that affects the muscles of the body
  • Musculoskeletal conditions: Medical conditions affecting the musculoskeletal system of bones, muscles and related structures.
  • Myoclonus: Sudden involuntary muscle twitching or movement.
  • Nervous system conditions: Diseases affecting the nerves and the nervous system.
  • Neuromuscular conditions: Conditions affecting the nerve-muscle systems.
  • Retinitis Pigmentosa: Retinitis pigmentosa is an inherited eye disorder characterized by progressive loss of peripheral vision and night vision difficulties that can cause central vision loss.
  • Spasms: Involuntary muscle movements without full control.
  • Tonic-clonic seizure: Abnormal electrical activity in the brain which results in stiffening and rigidity of muscles (tonic phase) followed by rhythmic jerking motions (clonic phase). The tonic phase tends to last less than half a minute and the clonic phase usually lasts a couple of minutes. This type of seizure affects the whole brain. Full recovery from symptoms such as fatigue following an episode may take from minutes to days. Consciousness tends to return slowly.


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