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Genetic disorders

Pearson Syndrome: A Rare Mitochondrial Disorder

What is Pearson Syndrome? Pearson Syndrome is a rare, fatal mitochondrial disorder characterized by multisystem involvement, commonly affecting the bone marrow and pancreas. With an incidence of approximately one in...

Malignant Hyperthermia: Recognize & Respond to This Emergency

Malignant hyperthermia is a sudden, severe onset of muscle rigidity, hypermetabolism, respiratory failure, and cardiovascular compromise in a...

Hunter Syndrome: Understanding This Rare Genetic Disorder

Hunter syndrome (also known as mucopolysaccharidosis II or MPS II) is a rare X-linked recessive lysosomal storage disorder...

Batten Disease: Understanding Symptoms & Treatment Options

Batten disease is a rare disease affecting the nervous system. Weak eyesight, seizures, slowed growth rate, delays in...

MODY Diabetes: Unraveling the Unique Form of Diabetes

MODY Diabetes Maturity-onset diabetes of the young (MODY) is a non-insulin-dependent type of diabetes mellitus that doctors usually discover...

Acute Hepatic Porphyria: Symptoms, Causes & Management

What is Acute Hepatic Porohria? Acute hepatic porphyria (AHP) is a group of metabolic disorders characterized by the buildup of specific molecules known as porphyrins...

Pierre Robin Syndrome: Understanding the Condition

Pierre Robin Syndrome, a rare congenital disorder, manifests with facial and mouth deformities that impede breathing. It can occur independently or alongside syndromes like...

Alagille Syndrome: Understanding & Managing This Rare Disorder

Alagille syndrome is a genetic condition that primarily affects the liver but can also impact other organs, such as the heart, kidneys, and eyes....

Pompe Disease: Understanding Symptoms & Treatments

What is Pompe Disease? Pompe disease, also referred to as Glycogen Storage Disease Type II (GSDII), is a rare genetic disorder characterized by muscle wasting...

Dystrophic Epidermolysis Bullosa: A Rare Skin Disorder

Dystrophic Epidermolysis Bullosa is a rare hereditary skin disorder that causes the skin, mucous membranes, and nails to become highly fragile. It presents with...

Ichthyosis Vulgaris: Symptoms, Causes & Treatment

What is Ichthyosis Vulgaris? Ichthyosis is a skin disease that has many variants. The term "ichthyosis" is derived from the Greek word "ichthys," meaning fish,...