Roussy-Lévy syndrome- MedGen UID:
- 64430
- •Concept ID:
- C0205713
- •
- Disease or Syndrome
Roussy-Levy syndrome is an autosomal dominant disorder characterized by early onset of prominent ataxia followed by late onset of mild motor involvement. Symptoms progress very slowly, and affected individuals may remain ambulatory throughout life (Auer-Grumbach et al., 1998; Plante-Bordeneuve et al., 1999).
Tremor, hereditary essential, 2- MedGen UID:
- 356087
- •Concept ID:
- C1865810
- •
- Disease or Syndrome
Autosomal recessive Parkinson disease 14- MedGen UID:
- 414488
- •Concept ID:
- C2751842
- •
- Disease or Syndrome
Parkinson's disease can also affect emotions and thinking ability (cognition). Some affected individuals develop psychiatric conditions such as depression and visual hallucinations. People with Parkinson's disease also have an increased risk of developing dementia, which is a decline in intellectual functions including judgment and memory.\n\nGenerally, Parkinson's disease that begins after age 50 is called late-onset disease. The condition is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 are sometimes referred to as juvenile-onset Parkinson's disease.\n\nOften the first symptom of Parkinson's disease is trembling or shaking (tremor) of a limb, especially when the body is at rest. Typically, the tremor begins on one side of the body, usually in one hand. Tremors can also affect the arms, legs, feet, and face. Other characteristic symptoms of Parkinson's disease include rigidity or stiffness of the limbs and torso, slow movement (bradykinesia) or an inability to move (akinesia), and impaired balance and coordination (postural instability). These symptoms worsen slowly over time.\n\nParkinson's disease is a progressive disorder of the nervous system. The disorder affects several regions of the brain, especially an area called the substantia nigra that controls balance and movement.
Dystonia 22, adult-onset- MedGen UID:
- 1841294
- •Concept ID:
- C5830658
- •
- Disease or Syndrome
Adult-onset dystonia-22 (DYT22AO) is an autosomal recessive disorder characterized by focal dystonia or tremor and mild cognitive impairment (Mencacci et al., 2021).