serw-MX  [xml]  

 DeCS Categories

C10 Nervous System Diseases .
C10.228 Central Nervous System Diseases .
C10.228.854 Spinal Cord Diseases .
C10.228.854.139 Amyotrophic Lateral Sclerosis .
C10.574 Neurodegenerative Diseases .
C10.574.562 Motor Neuron Disease .
C10.574.562.250 Amyotrophic Lateral Sclerosis .
C10.574.950 TDP-43 Proteinopathies .
C10.574.950.050 Amyotrophic Lateral Sclerosis .
C10.668 Neuromuscular Diseases .
C10.668.467 Motor Neuron Disease .
C10.668.467.250 Amyotrophic Lateral Sclerosis .
C12 Male Urogenital Diseases .
C12.777 Urologic Diseases .
C12.777.419 Kidney Diseases .
C12.777.419.815 Renal Tubular Transport, Inborn Errors .
C12.777.419.815.364 Dent Disease .
C13 Female Urogenital Diseases and Pregnancy Complications .
C13.351 Female Urogenital Diseases .
C13.351.968 Urologic Diseases .
C13.351.968.419 Kidney Diseases .
C13.351.968.419.815 Renal Tubular Transport, Inborn Errors .
C13.351.968.419.815.364 Dent Disease .
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities .
C16.320 Genetic Diseases, Inborn .
C16.320.322 Genetic Diseases, X-Linked .
C16.320.322.100 Dent Disease .
C16.320.565 Metabolism, Inborn Errors .
C16.320.565.861 Renal Tubular Transport, Inborn Errors .
C16.320.565.861.271 Dent Disease .
C18 Nutritional and Metabolic Diseases .
C18.452 Metabolic Diseases .
C18.452.648 Metabolism, Inborn Errors .
C18.452.648.861 Renal Tubular Transport, Inborn Errors .
C18.452.648.861.271 Dent Disease .
C18.452.845 Proteostasis Deficiencies .
C18.452.845.800 TDP-43 Proteinopathies .
C18.452.845.800.050 Amyotrophic Lateral Sclerosis .
 Synonyms & Historicals
Amyotrophic Lateral Sclerosis .
ALS (Amyotrophic Lateral Sclerosis) .
Amyotrophic Lateral Sclerosis With Dementia .
Amyotrophic Lateral Sclerosis, Guam Form .
Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam .
Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1 .
Charcot Disease .
Dementia With Amyotrophic Lateral Sclerosis .
Gehrig's Disease .
Guam Disease .
Guam Form of Amyotrophic Lateral Sclerosis .
Lou Gehrig's Disease .
Lou-Gehrigs Disease .
Amyotrophic Lateral Sclerosis Parkinsonism Dementia Complex 1 .
Amyotrophic Lateral Sclerosis, Parkinsonism Dementia Complex of Guam .
Disease, Guam .
Disease, Lou-Gehrigs .
Gehrig Disease .
Gehrigs Disease .
Sclerosis, Amyotrophic Lateral .
Lou Gehrig Disease .
Motor Neuron Disease, Amyotrophic Lateral Sclerosis .
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) .
Dent Disease .
Dents Disease .
Disease, Dent .
Disease, Dent's .
Disease, Dents .
Dent's Disease .
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene. .