临床推理:一个50岁的男子患有缩症, dystonia 和异常的眼睛运动
Baikuntha Panigrahi1, Divya Madathiparambil Radhakrishnan1, Arti Saini1
1From the Department of Neurology, All India Institute of Medical Sciences, New Delhi, India.
Neurology
|November 12, 2024
概括
本案例研究详细介绍了一名患有成人发作的小脑动力衰竭, dystonia 和眼睛运动问题的患者. 它强调临床评估和全外体序列测序,用于诊断罕见的神经疾病.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
背景情况:
- 成人发病的小脑动症是一组进展性神经退行性疾病.
- dystonia 和眼运动异常可能是呈现特征.
- 在确定特定的遗传原因方面存在诊断挑战.
相关概念视频
Parkinson's Disease: Overview
482
Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
482
Accessory Structures of the Eye
1.5K
Optical perception, or vision, is an extraordinary sense dependent on converting light signals received via the ocular organs. These organs, known as eyes, are securely positioned within the bony cavities of the skull, called orbits. The orbits serve a dual purpose: a protective shield for the ocular globes and a stable attachment point for the soft ocular tissues. The eye's external protective mechanisms include the eyelids, which are edged with lashes that act as a barrier against foreign...
1.5K
Parkinson's Disease: Treatment
222
Neurodegenerative disorders, such as Parkinson's Disease (PD), involve the gradual and irreversible destruction of neurons in particular brain areas. These disorders exhibit standard features like proteinopathies, selective vulnerability of some neurons, and an interaction of intrinsic properties, genetics, and environmental influences in neural injury.
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
Parkinson's Disease is primarily a result of the loss of dopaminergic neurons in the substantia nigra pars compacta. The cornerstone of...
222
Major Somatic Sensory Pathways
898
Sensory impulses related to touch, pressure, vibration, and proprioception from various body parts, such as the limbs, trunk, neck, and posterior head, travel to the cerebral cortex through the posterior column-medial lemniscus pathway. The pathway’s name derives from the two white-matter tracts that convey the impulses: the spinal cord's posterior column and the brainstem's medial lemniscus. First-order sensory neurons extend their axons into the spinal cord, forming the...
898
Indirect Motor Pathways
1.4K
The indirect motor or extrapyramidal pathways originate in the brainstem, the lower portion of the brain that connects it to the spinal cord. They consist of several distinct tracts, each with specialized functions. The four main tracts of the indirect motor pathways are the vestibulospinal tract, the reticulospinal tract, the tectospinal tract, and the rubrospinal tract.
The vestibulospinal tract originates in the vestibular nuclei of the brainstem. The vestibular system detects changes in...
The vestibulospinal tract originates in the vestibular nuclei of the brainstem. The vestibular system detects changes in...
1.4K


