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taiba rare Taiba Rare is dedicated to making life better for people with rare diseases in the MENA region.

There are 13 types of EDS, most of which are .Hypermobile EDS (hEDS) is the most common type. ( ) are a group of herit...
11/05/2026

There are 13 types of EDS, most of which are .
Hypermobile EDS (hEDS) is the most common type.

( ) are a group of heritable connective tissue disorders caused by defects in collagen synthesis or structure. Collagen is essential for the integrity of skin, joints, blood vessels, and internal organs, making EDS a multisystem condition.

The most common features include joint hypermobility, skin hyperextensibility, and tissue fragility, but severity varies widely by subtype. Vascular EDS is particularly serious, as it can lead to arterial rupture, organ perforation, and life-threatening complications.

Diagnosis is often delayed due to variability in presentation. Management focuses on injury prevention, physiotherapy, and monitoring for systemic complications. Increased awareness is key to early recognition and proper care.

is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene, leading to toxic...
10/05/2026

is an autosomal dominant neurodegenerative disorder caused by an expanded CAG repeat in the HTT gene, leading to toxic accumulation of mutant huntingtin protein in brain cells. This results in progressive neuronal loss, particularly in the basal ganglia.

Clinically, the disease is characterized by a triad of motor dysfunction (chorea), cognitive decline, and psychiatric disturbances such as depression and irritability. Symptoms usually appear in mid-adulthood and worsen over time, leading to significant functional impairment.

There is currently no cure, but symptomatic management, multidisciplinary care, and genetic counseling play a vital role in improving patient support and planning for affected families.

is a severe developmental and epileptic encephalopathy most commonly caused by mutations in the SCN1A gene, leading to...
07/05/2026

is a severe developmental and epileptic encephalopathy most commonly caused by mutations in the SCN1A gene, leading to dysfunction in sodium channels responsible for neuronal signaling. This results in early-onset, prolonged seizures that are often resistant to standard anti-seizure medications.
Seizures typically begin in the first year of life, frequently triggered by fever, and evolve into multiple seizure types including myoclonic, absence, and focal seizures. Over time, patients develop cognitive impairment, motor dysfunction, behavioral challenges, and a higher risk of sudden unexpected death in epilepsy (SUDEP).
Management focuses on seizure control, avoidance of triggers, and supportive therapies. Early genetic diagnosis is essential to guide appropriate treatment strategies and avoid medications that may worsen seizures.

Pompe disease is a rare genetic disorder where the body cannot properly break down glycogen due to a deficiency of the e...
15/04/2026

Pompe disease is a rare genetic disorder where the body cannot properly break down glycogen due to a deficiency of the enzyme acid alpha-glucosidase (GAA). This leads to the buildup of glycogen inside cells—especially in muscles—causing progressive damage to the heart, skeletal muscles, and respiratory system.

The disease can appear early in infancy or later in life. Infantile-onset Pompe disease is more severe, often leading to life-threatening heart and breathing complications within the first year if untreated. Late-onset Pompe disease progresses more slowly but still causes significant muscle weakness and respiratory challenges over time.

While there is no cure yet, treatments like enzyme replacement therapy (ERT) can help reduce symptoms, improve muscle function, and slow disease progression. Early diagnosis plays a crucial role in improving quality of life and outcomes for patients.

Pompe disease is a rare genetic disorder where the body cannot properly break down glycogen due to a deficiency of the e...
15/04/2026

Pompe disease is a rare genetic disorder where the body cannot properly break down glycogen due to a deficiency of the enzyme acid alpha-glucosidase (GAA). This leads to the buildup of glycogen inside cells—especially in muscles—causing progressive damage to the heart, skeletal muscles, and respiratory system.

The disease can appear early in infancy or later in life. Infantile-onset Pompe disease is more severe, often leading to life-threatening heart and breathing complications within the first year if untreated. Late-onset Pompe disease progresses more slowly but still causes significant muscle weakness and respiratory challenges over time.

While there is no cure yet, treatments like enzyme replacement therapy (ERT) can help reduce symptoms, improve muscle function, and slow disease progression. Early diagnosis plays a crucial role in improving quality of life and outcomes for patients.

refers to a group of rare metabolic disorders caused by abnormalities in heme production, leading to the accumulation ...
12/04/2026

refers to a group of rare metabolic disorders caused by abnormalities in heme production, leading to the accumulation of toxic substances in the body. These disorders can affect the skin, nervous system, or both.

Symptoms vary widely and may include severe abdominal pain, neurological disturbances, photosensitivity, and skin fragility. Because symptoms often mimic other conditions, diagnosis is frequently delayed.

Awareness is key to improving diagnostic pathways, enabling early treatment, and reducing the risk of life-threatening complications.

is a rare, inherited neurodegenerative disorder caused by a genetic mutation that leads to progressive damage of brain...
09/04/2026

is a rare, inherited neurodegenerative disorder caused by a genetic mutation that leads to progressive damage of brain cells. It affects movement, cognition, and behavior, typically presenting in adulthood.

Symptoms include involuntary movements (chorea), cognitive decline, and psychiatric changes, significantly impacting daily functioning. Because it is inherited in an autosomal dominant pattern, each child of an affected parent has a 50% chance of developing the condition.

Awareness promotes genetic counseling, early support systems, and continued research toward better disease management.

is a genetic disorder that affects the lungs and digestive system by producing thick, sticky mucus that clogs airways ...
06/04/2026

is a genetic disorder that affects the lungs and digestive system by producing thick, sticky mucus that clogs airways and traps bacteria. This leads to chronic respiratory infections and progressive lung damage.

In addition to respiratory complications, affects nutrient absorption due to pancreatic dysfunction, leading to growth challenges and fatigue. Advances in care, including targeted therapies, have significantly improved life expectancy in recent years.

Awareness efforts focus on early detection through newborn screening, improved treatment access, and ongoing research toward better long-term outcomes.

is an ultra-rare genetic disorder that primarily affects boys and impacts the body’s ability to produce energy at the ...
05/04/2026

is an ultra-rare genetic disorder that primarily affects boys and impacts the body’s ability to produce energy at the cellular level. It is caused by mutations affecting mitochondrial function, leading to weakened muscles and heart complications.

Individuals with Barth Syndrome often experience cardiomyopathy, muscle weakness, growth delays, and recurrent infections due to low white blood cell counts. The condition can be life-threatening, particularly in early childhood.

Symptoms occur at birth or shortly afterward. Children with Barth syndrome usually have a shorter lifespan due to heart issues. There is no cure. But treatments can lower the risk of complications and maximize quality of life.

is a rare, inherited metabolic disorder caused by deficiency of the enzyme , leading to accumulation of fatty substan...
04/04/2026

is a rare, inherited metabolic disorder caused by deficiency of the enzyme , leading to accumulation of fatty substances in blood vessels and vital organs. This progressive buildup affects the , , and , often beginning in childhood but worsening over time.

Early symptoms may include burning pain in the hands and feet, heat intolerance, skin lesions (angiokeratomas), and gastrointestinal issues. As the disease progresses, patients may develop kidney failure, cardiac complications, and stroke risk, making early recognition critical.

Awareness during this month promotes early diagnosis, genetic testing, and timely intervention to improve long-term outcomes and quality of life.

Lipodystrophy is a rare disorder characterized by abnormal or absent body fat distribution. It may be genetic or acquire...
31/03/2026

Lipodystrophy is a rare disorder characterized by abnormal or absent body fat distribution. It may be genetic or acquired and can lead to serious metabolic complications such as insulin resistance, diabetes, and high triglyceride levels.

Because fat tissue plays a vital role in hormone regulation and metabolism, its absence disrupts the body’s balance. Patients may experience visible physical changes along with metabolic disturbances that require lifelong medical management.

On , we raise awareness about early diagnosis and comprehensive care for individuals living with this rare metabolic condition.

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