Phenylketonuria
An inherited amino-acid metabolism disorder; lifelong dietary phenylalanine restriction prevents neurological damage. წაიკითხეთ სრულად → news.gmj.ge
Cystic Fibrosis
A multisystem autosomal-recessive disorder of the CFTR chloride channel; CFTR modulators have transformed outcomes for eligible genotypes. წაიკითხეთ სრულად →…
Huntington Disease
A progressive autosomal-dominant neurodegenerative disorder caused by a CAG repeat expansion in the HTT gene; current therapies are symptomatic. წაიკითხეთ…
Marfan Syndrome
A heritable connective-tissue disorder affecting the cardiovascular system, eyes and skeleton; aortic complications are the main cause of mortality. წაიკითხეთ…
Ehlers-Danlos Syndrome
A group of heritable connective-tissue disorders affecting collagen; management is largely supportive and type-specific. წაიკითხეთ სრულად → news.gmj.ge
Wilson Disease
An inherited disorder of copper metabolism causing toxic copper accumulation in the liver, brain and other tissues; treatable when diagnosed…
Hemophilia A
The most common severe inherited bleeding disorder; factor replacement, non-factor therapy and gene therapy are available. წაიკითხეთ სრულად → news.gmj.ge
Hemophilia B
An inherited bleeding disorder from factor IX deficiency; factor replacement and gene therapy are available. წაიკითხეთ სრულად → news.gmj.ge
Duchenne Muscular Dystrophy
A severe X-linked muscular dystrophy caused by dystrophin deficiency; corticosteroids, exon-skipping agents and gene therapy are used in eligible patients.…
Spinal Muscular Atrophy
A motor-neuron disorder caused by SMN1 loss; SMN-targeted therapies have markedly changed the natural history, especially with early treatment. წაიკითხეთ…
Amyotrophic Lateral Sclerosis
A progressive neurodegenerative motor-neuron disease; available therapies modestly slow progression, with a SOD1-targeted option for that genetic subtype. წაიკითხეთ სრულად…
Pompe Disease
A lysosomal glycogen storage disorder from acid alpha-glucosidase deficiency; enzyme replacement therapy improves survival and function. წაიკითხეთ სრულად → news.gmj.ge
Myasthenia Gravis
An autoimmune disorder of the neuromuscular junction; symptomatic, immunosuppressive and targeted therapies are available. წაიკითხეთ სრულად → news.gmj.ge
Primary Immunodeficiency
What is Primary Immunodeficiency? Primary immunodeficiency (PID) refers to a group of more than 400 rare genetic disorders that affect…
Systemic Mastocytosis
A clonal mast-cell disorder spanning indolent to advanced forms; KIT-targeted therapy is available. წაიკითხეთ სრულად → news.gmj.ge
Pulmonary Arterial Hypertension
A progressive pulmonary vascular disease; multiple drug classes targeting distinct pathways improve symptoms and outcomes. წაიკითხეთ სრულად → news.gmj.ge
Hereditary Angioedema
A complement-pathway disorder causing recurrent angioedema; effective acute and prophylactic therapies exist. წაიკითხეთ სრულად → news.gmj.ge
Acromegaly
A chronic disorder of growth hormone excess; surgery, somatostatin analogues and a GH-receptor antagonist control disease. წაიკითხეთ სრულად → news.gmj.ge
Hypertension
What is Hypertension? Hypertension, commonly known as high blood pressure, is a chronic cardiovascular condition where blood pressure in the…
Type 2 Diabetes
Type 2 Diabetes What is Type 2 Diabetes? Type 2 diabetes is a chronic metabolic disorder characterized by high blood…
Hypertension
What is Hypertension? Hypertension, commonly known as high blood pressure, is a chronic cardiovascular condition where the force of blood…
Type 2 Diabetes
Type 2 Diabetes What is Type 2 Diabetes? Type 2 diabetes is a chronic metabolic disorder characterized by insulin resistance…
Asthma
What is Asthma? Asthma is a chronic respiratory condition characterized by inflammation and narrowing of the airways, making it difficult…
COPD
Chronic Obstructive Pulmonary Disease (COPD) What is COPD? Chronic Obstructive Pulmonary Disease (COPD) is a progressive lung condition characterized by…
Coronary Artery Disease
What is Coronary Artery Disease? Coronary artery disease (CAD) is a condition where the major blood vessels that supply the…
Heart Failure
What is Heart Failure? Heart failure is a chronic condition where the heart muscle becomes weakened or stiffened and cannot…
Atrial Fibrillation
Atrial Fibrillation: A Comprehensive Guide What is Atrial Fibrillation? Atrial fibrillation (AF) is the most common type of irregular heart…
Stroke
Stroke What is Stroke? A stroke occurs when blood flow to part of the brain is interrupted or reduced, preventing…
Major Depressive Disorder
Major Depressive Disorder What is Major Depressive Disorder? Major Depressive Disorder (MDD) is a serious mental health condition characterized by…
Generalized Anxiety Disorder
Generalized Anxiety Disorder What is Generalized Anxiety Disorder? Generalized Anxiety Disorder (GAD) is a common mental health condition characterized by…
Epilepsy
What is Epilepsy? Epilepsy is a chronic neurological disorder characterized by recurrent, unprovoked seizures caused by abnormal electrical activity in…
Migraine
Migraine: A Comprehensive Condition Profile What is Migraine? Migraine is a complex neurological disorder characterized by recurrent, severe headaches often…
X-linked hypophosphatemia
Commonest inherited rickets from FGF23 excess and renal phosphate wasting. წაიკითხეთ სრულად → news.gmj.ge
Xeroderma pigmentosum
Defective nucleotide-excision repair with extreme UV sensitivity and very high skin cancer risk. წაიკითხეთ სრულად → news.gmj.ge
Wiskott-Aldrich syndrome
Triad of eczema, microthrombocytopenia and immunodeficiency. წაიკითხეთ სრულად → news.gmj.ge
X-linked agammaglobulinemia
Failure of B-cell maturation with near-absent immunoglobulins and recurrent bacterial infections. წაიკითხეთ სრულად → news.gmj.ge
Wilms tumor
Commonest childhood kidney cancer. წაიკითხეთ სრულად → news.gmj.ge
Von Willebrand disease
The most common inherited bleeding disorder; treatment depends on type and ranges from desmopressin to factor concentrate. წაიკითხეთ სრულად →…
Williams syndrome
Microdeletion disorder with cardiovascular disease, distinctive facies and a sociable personality. წაიკითხეთ სრულად → news.gmj.ge
Whipple disease
Rare systemic bacterial infection with malabsorption, arthralgia and neurologic involvement. წაიკითხეთ სრულად → news.gmj.ge
Urea cycle disorders
A group of inborn errors of nitrogen handling; treatment combines protein restriction with nitrogen-scavenging drugs and emergency protocols. წაიკითხეთ სრულად…
Usher syndrome
Commonest cause of combined deaf-blindness, pairing sensorineural hearing loss with retinitis pigmentosa. წაიკითხეთ სრულად → news.gmj.ge
Tuberous sclerosis complex
A multisystem autosomal-dominant disorder of mTOR pathway regulation; mTOR inhibitors treat several manifestations. წაიკითხეთ სრულად → news.gmj.ge
Tyrosinemia type 1
An inborn error of tyrosine metabolism; nitisinone with dietary restriction transformed the prognosis. წაიკითხეთ სრულად → news.gmj.ge
Turner syndrome
A sex-chromosome disorder; growth hormone and oestrogen replacement, with cardiac surveillance, are central to care. წაიკითხეთ სრულად → news.gmj.ge
Tay-Sachs disease
Fatal neurodegenerative GM2 gangliosidosis from hexosaminidase A deficiency. წაიკითხეთ სრულად → news.gmj.ge
Thrombotic thrombocytopenic purpura
A thrombotic microangiopathy from ADAMTS13 deficiency; urgent plasma exchange with immunosuppression is the mainstay, with a targeted adjunct. წაიკითხეთ სრულად…
Treacher Collins syndrome
Craniofacial disorder of the first/second branchial arches. წაიკითხეთ სრულად → news.gmj.ge
Stiff-person syndrome
Rare autoimmune disorder with progressive axial rigidity and painful spasms triggered by stimuli. წაიკითხეთ სრულად → news.gmj.ge
Takayasu arteritis
Granulomatous large-vessel vasculitis affecting the aorta and branches, mainly in young women. წაიკითხეთ სრულად → news.gmj.ge