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Symptoms and Testing information for KIF5A Gene SPG10 Genetic Test

Symptoms and Testing information for KIF5A Gene SPG10 Genetic Test

The KIF5A gene plays a crucial role in the body, especially concerning the nervous system’s development and function. Mutations in this gene can lead to a condition known as Spastic Paraplegia 10 (SPG10), a form of hereditary spastic paraplegia. This disorder primarily affects the lower extremities, leading to progressive weakness and spasticity. Understanding the symptoms […]

Symptoms and Testing information for L1CAM Gene SPG1 Genetic Test

Symptoms and Testing information for L1CAM Gene SPG1 Genetic Test

Understanding the nuances of genetic conditions is crucial for early diagnosis and management. Among these, the L1CAM gene mutation, leading to a condition known as SPG1, is of particular interest. The L1CAM gene plays a significant role in the nervous system’s development, influencing nerve cell adhesion and axon guidance. Mutations in this gene can lead […]

Symptoms and Testing information for ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test

Symptoms and Testing information for ALS2 Gene Spastic Paralysis Infantile Onset Ascending Genetic Test

Understanding the symptoms and genetic underpinnings of rare neurological disorders is crucial for early diagnosis and management. Among these conditions, a particular focus has been placed on the ALS2 gene-related disorder, known as Spastic Paralysis Infantile Onset Ascending (SPIA). This genetic condition, although rare, presents a significant impact on the quality of life of affected […]

Symptoms and Testing information for MARS2 Gene Spastic Ataxia Type 3 Autosomal Recessive Genetic Test

Symptoms and Testing information for MARS2 Gene Spastic Ataxia Type 3 Autosomal Recessive Genetic Test

— Understanding the Symptoms of MARS2 Gene Spastic Ataxia Type 3 Autosomal Recessive Disorder Spastic ataxia type 3, also known as autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), is a rare genetic disorder that affects the nervous system. This condition is characterized by a combination of spasticity and ataxia, which are respectively stiffness and voluntary […]

Symptoms and Testing information for SACS Gene Spastic Ataxia Charlevoix-Saguenay Type Genetic Test

Symptoms and Testing information for SACS Gene Spastic Ataxia Charlevoix-Saguenay Type Genetic Test

Symptoms of SACS Gene Spastic Ataxia Charlevoix-Saguenay Type Genetic Test Spastic Ataxia Charlevoix-Saguenay (ARSACS) is a rare, neurodegenerative disorder characterized by a wide range of clinical symptoms. The condition is primarily caused by mutations in the SACS gene, which plays a crucial role in the functioning of neurons. Understanding the symptoms of ARSACS is crucial […]

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