Search for "Spinal muscular atrophy" in article titles:

  1. Spinal muscular atrophy: Spinal muscular atrophy (SMA) is a group of neuromuscular disorders that result in the loss of motor neurons and progressive muscle wasting. The severity of symptoms and age of onset varies by the type. (Rare congenital neuromuscular disorder) [100%] 2023-12-22 [Spinal muscular atrophy] [Motor neuron diseases]...
  2. Spinal muscular atrophy: Spinal muscular atrophy : A group of disorders marked by progressive degeneration of motor neurons in the spinal cord, resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. [100%] 2023-12-28
  3. Spinal muscular atrophy: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic ... (Medicine) [100%] 2023-12-22 [Motor neuron diseases] [Autosomal recessive disorders]...
  4. Spinal muscular atrophy: Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic ... (Rare congenital neuromuscular disorder) [100%] 2023-12-31 [Spinal muscular atrophy] [Motor neuron diseases]...
  5. Spinal muscular atrophy diagnosis: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [86%] 2023-12-22 [Motor neuron disease] [Genetic disorders]...
  6. Spinal muscular atrophy genetics: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [86%] 2023-12-26 [Motor neuron disease] [Genetic disorders]...
  7. Spinal muscular atrophy screening: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [86%] 2023-12-27 [Motor neuron disease] [Genetic disorders]...
  8. Spinal muscular atrophy (patient information): Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... (Patient information) [77%] 2023-12-27 [Motor neuron disease] [Genetic disorders]...
  9. Spinal muscular atrophy other forms: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [77%] 2023-12-22 [Motor neuron disease] [Genetic disorders]...
  10. Spinal muscular atrophy epidemiology and demographics: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [70%] 2023-08-06 [Motor neuron disease] [Genetic disorders]...
  11. Spinal muscular atrophy therapeutics development in SMA: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [65%] 2023-04-05
  12. Spinal muscular atrophy with progressive myoclonic epilepsy: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known ... (Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting) [65%] 2023-10-27 [Systemic atrophies primarily affecting the central nervous system] [Neurogenetic disorders]...
  13. Spinal muscular atrophy with lower extremity predominance: Spinal muscular atrophy with lower extremity predominance is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 gene (the ... (Medicine) [65%] 2023-11-10 [Neurogenetic disorders]
  14. Spinal muscular atrophy with progressive myoclonic epilepsy: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known ... (Medicine) [65%] 2023-05-30 [Neurogenetic disorders] [Autosomal recessive disorders]...
  15. Spinal muscular atrophy with lower extremity predominance 2A: Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs. The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking ... (Rare genetic disease) [61%] 2023-10-28 [Autosomal dominant disorders] [Neurogenetic disorders]...
  16. Spinal muscular atrophy with lower extremity predominance 1: Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 ... (Rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy) [61%] 2023-04-13 [Autosomal dominant disorders] [Neurogenetic disorders]...
  17. Spinal muscular atrophy with lower extremity predominance 1: Spinal muscular atrophy with lower extremity predominance 1 (SMALED1) is an extremely rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy which is especially prominent in legs. The disorder is associated with a genetic mutation in the DYNC1H1 ... (Rare neuromuscular disorder of infants characterised by severe progressive muscle atrophy) [61%] 2023-11-14 [Autosomal dominant disorders] [Neurogenetic disorders]...
  18. Spinal Muscular atrophy causes: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [86%] 2023-12-22 [Motor neuron disease] [Genetic disorders]...
  19. Spinal Muscular atrophy Screening: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [86%] 2023-12-22 [Motor neuron disease] [Genetic disorders]...
  20. Spinal and bulbar muscular atrophy: Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a progressive debilitating neurodegenerative disorder resulting in muscle cramps and progressive weakness due to degeneration of motor neurons in the brainstem and spinal cord. The condition is ... [77%] 2023-12-26 [Transcription factor deficiencies] [Endocrine gonad disorders]...
  21. Spinal Muscular atrophy Risk Factor: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [77%] 2023-12-28
  22. Congenital distal spinal muscular atrophy: Congenital distal spinal muscular atrophy is a hereditary condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset contractures (permanent shortening of a muscle or joint) of the hip, knee, and ankle ... (Medicine) [77%] 2023-06-09 [Neurogenetic disorders]
  23. Spinal and bulbar muscular atrophy: Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which ... (Medicine) [77%] 2023-12-02 [Transcription factor deficiencies] [Motor neuron diseases]...
  24. Congenital distal spinal muscular atrophy: Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset ... (Hereditary condition characterized by muscle wasting) [77%] 2023-10-29 [Systemic atrophies primarily affecting the central nervous system] [Autosomal dominant disorders]...
  25. Spinal and bulbar muscular atrophy: Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which ... [77%] 2023-03-21 [Transcription factor deficiencies] [Endocrine gonad disorders]...
  26. Congenital distal spinal muscular atrophy: Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII (dHMN8), is a hereditary medical condition characterized by muscle wasting (atrophy), particularly of distal muscles in legs and hands, and by early-onset ... (Hereditary condition characterized by muscle wasting) [77%] 2024-05-09 [Systemic atrophies primarily affecting the central nervous system] [Autosomal dominant disorders]...
  27. Jokela type spinal muscular atrophy: Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare neuromuscular disorder characterized by muscle twitches and cramps. The symptoms appear in adulthood and gradually progress. (Medicine) [77%] 2025-01-18 [Rare diseases] [Motor neuron diseases]...
  28. Distal spinal muscular atrophy type 1: Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy ... [70%] 2023-10-27 [Motor neuron diseases] [Autosomal recessive disorders]...
  29. Spinal Muscular atrophy epidemiology and demographics: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [70%] 2023-04-24 [Motor neuron disease] [Genetic disorders]...
  30. Distal spinal muscular atrophy type 1: Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy ... (Medicine) [70%] 2023-04-29 [Motor neuron diseases] [Autosomal recessive disorders]...
  31. Distal spinal muscular atrophy type 2: Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been ... (Medicine) [70%] 2023-03-30 [Genetic diseases and disorders]
  32. Distal spinal muscular atrophy type 2: Distal spinal muscular atrophy type 2 (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very rare childhood-onset genetic disorder characterised by progressive muscle wasting affecting lower and subsequently upper limbs. The disorder has been ... (Medicine) [70%] 2024-05-06 [Genetic diseases and disorders]
  33. Spinal Muscular atrophy outcome measures in SMA: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [65%] 2023-04-09
  34. Spinal Muscular atrophy therapeutics development in SMA: Home Patient Info Overview Epidemiology and Demographics Risk Factors Screening Other forms Molecular Biology Genetics Types Diagnosis Diagnosis Full Differential Diagnosis Symptom Physical Examination Electrolyte & Biomarker Studies Electrocardiogram Chest X Ray MRI and CT Echocardiography or Ultrasound Other Imaging Findings ... [65%] 2023-08-06

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