Episodic ataxia type 5 is a rare genetic disorder that affects the nervous system, leading to intermittent episodes of poor coordination and balance (ataxia). This condition is caused by mutations in the CACNB4 gene, which plays a crucial role in the proper functioning of calcium channels in the body. These channels are essential for the […]

Episodic ataxia type 6 (EA6) is a rare neurological disorder characterized by episodes of ataxia, which is a lack of muscle coordination that can affect speech, eye movements, and the ability to swallow, walk, and perform fine motor tasks. These episodes can vary in frequency and duration, often triggered by stress, physical exertion, or sudden […]

Understanding the nuances of genetic conditions is essential for both patients and healthcare providers. Among these, the SCN10A gene plays a significant role in the human body, particularly concerning the nervous system’s function. Mutations in this gene can lead to a condition known as Episodic Pain Syndrome Type 2, a familial genetic disorder that affects […]

Understanding SCN11A Gene Episodic Pain Syndrome Type 3 Familial Episodic pain syndrome type 3 familial, linked to the SCN11A gene, is a rare genetic disorder that manifests as episodes of intense pain without a clear trigger. This condition is part of a broader group of disorders known as sodium channelopathies, which affect the way sodium […]

— Understanding the symptoms of SCN9A Gene Erythermalgia and the importance of genetic testing can be a crucial step towards managing and treating this condition effectively. Erythermalgia, also known as Primary Erythromelalgia (PE), is a rare disorder characterized by episodes of burning pain, increased temperature, and redness in the extremities. The SCN9A gene has been […]

Ethylmalonic encephalopathy is a rare, inherited metabolic disorder characterized by a wide range of symptoms that can affect numerous systems within the body. It is caused by mutations in the ETHE1 gene, which plays a crucial role in the body’s metabolic processes. Understanding the symptoms of this disorder is vital for early diagnosis and treatment. […]

Facial paresis type 3, a condition characterized by the weakness of facial muscles, is a rare but significant disorder that affects individuals right from birth. This condition is primarily associated with mutations in the HOXB1 gene, which plays a crucial role in the development of the facial nerve. Understanding the symptoms and undergoing genetic testing […]

Facioscapulohumeral dystrophy (FSHD) is a complex and rare muscular disorder, traditionally linked to the DUX4 gene. However, recent advancements in genetic research have identified a related phenotype associated with mutations in the FAT1 gene, leading to a condition that mimics FSHD. DNA Labs UAE, a leading genetic testing facility, offers a comprehensive FAT1 gene facioscapulohumeral […]

Understanding the complexities of genetic disorders is crucial for early diagnosis and effective management. One such genetic condition is Familial Hemiplegic Migraine Type 1 (FHM1), linked to mutations in the CACNA1A gene. DNA Labs UAE offers a comprehensive genetic test for this condition, aiming to provide individuals and families with the necessary information for better […]

Familial Hemiplegic Migraine Type 2 (FHM2) is a rare form of migraine headache that is passed down through families. This condition is characterized by a variety of symptoms that differentiate it from other types of migraines. The ATP1A2 gene plays a crucial role in this condition, and mutations in this gene are responsible for the […]