Skip to main content

Posts

ADCY5-Related Dyskinesia

ADCY5-Related Dyskinesia Overview ADCY5-related dyskinesia is a rare neurological disorder characterized by various movement abnormalities. People with this condition have dyskinesia, a movement disorder characterized by trouble controlling voluntary movements, which are movements that a person does intentionally, such as lifting their arms, walking, or turning their heads. Instead, they experience uncontrolled, involuntary movements like sudden jerks, writhing motions, twitches, twisting, or tremors. These movements typically affect the arms, legs, neck and face. Symptoms can begin in babies, young children or teenagers and continue throughout life, though there can be periods without symptoms (remission). The severity varies greatly from one person to another, but intelligence and life span are generally unaffected. This condition is caused by a change (variant) in the ADCY5 gene. The disease-causing variant may be inherited from a parent, or it may occur spontaneously as a new varia...
Post a Comment
Read more
Recent posts

Adams-Oliver Syndrome

Adams-Oliver Syndrome Overview Adams-Oliver syndrome (AOS) is a rare inherited condition present at birth that involves changes to the limbs and scalp. Symptoms may include areas of missing skin on the scalp, limb abnormalities, heart defects, neurological concerns and issues with the eyes. AOS is caused by changes (variants) in the ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, or RBPJ genes. Some people with AOS do not have a variant in one of these genes. AOS has different inheritance patterns based on the gene involved and can follow either an autosomal dominant or recessive inheritance pattern. There is no cure for AOS. However, it can be managed by monitoring and treating the symptoms. This is typically done by several different healthcare providers such as pediatricians, cardiologists and plastic surgeons. Signs & Symptoms Symptoms can vary widely based on the gene change (variant) that causes the disease, which is known as phenotype-genotype correlation, meaning that the signs and sy...
Post a Comment
Read more

Lipedema

Lipedema Overview What is lipedema? Lipedema is a long-term condition that causes abnormal fat buildup in the lower part of your body. Lipedema most often involves your butt, thighs and calves. Some people have it in their hips or upper arms. It doesn’t affect your hands or feet. People sometimes confuse lipedema with having overweight or lymphedema, but these are different conditions. However, lipedema can lead to lymphedema. Many people with lipedema have a body mass index (BMI) higher than 35. Dieting and exercising can cause you to lose weight in your upper body without changing the areas lipedema affects in your lower body. Types of lipedema You may have more than one type of lipedema at a time, depending on where you have symptoms. Types of lipedema include: Type I: Fat is between your belly button and your hips. Type II : Fat is between your pelvis and knees. Type III: Fat is between your pelvis and ankles. Type IV: Fat is between your shoulders and wrists. Type V: Fat is betw...
Post a Comment
Read more

Adenosine deaminase (ADA)

 Adenosine deaminase (ADA) Overview Adenosine deaminase (ADA) deficiency is a rare, autosomal recessive metabolic disorder that impairs lymphocyte development and causes severe combined immunodeficiency (SCID). Without the ADA enzyme, toxic metabolites (such as dATP) accumulate, destroying T, B, and NK cells. Untreated ADA-SCID is typically fatal in infancy. Symptoms The signs and symptoms of ADA deficiency generally fall into three categories :1. Severe Immune Deficiency (ADA-SCID)Around 80% of cases are severe and appear within the first 6 months of life. Without treatment, these are usually fatal within the first or second year. Recurrent Infections: Frequent, persistent, or unusual cases of pneumonia, chronic diarrhea, thrush (oral yeast), and skin rashes. Failure to Thrive: Severely slow growth in height and weight, often resulting in developmental delays. No Functional Immunity : A near-complete lack of T-cells, B-cells, and natural killer (NK) cells. 2. Skeletal & Non-...
Post a Comment
Read more

Autosomal Dominant Hyper IgE Syndrome

Autosomal Dominant Hyper IgE Syndrome Overview Autosomal dominant hyper IgE syndrome (AD-HIES) is a rare multisystem primary immunodeficiency disorder. Symptoms often become apparent early during infancy or childhood. The disorder is characterized by repeated bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features. The first symptom is often the development of a dry, red flaky skin rash (eczema) at birth or early during infancy. Researchers have discovered that mutations in the STAT3 gene cause AD-HIES in over 60% of the patients. Most cases of AD-HIES occur as the result of a new mutation in this gene. There are two main forms of hyper IgE syndrome – one inherited in an autosomal dominant pattern and one in an autosomal recessive pattern. Both involve defects of the immune system and elevated levels of immunoglobulin E (hyper IgE) in the blood. For years, researchers considered them different expressions of the same disorder, ...
Post a Comment
Read more

Anauxetic dysplasia

Anauxetic dysplasia Overview Anauxetic dysplasia is an extremely rare, severe form of skeletal dysplasia. Meaning "not growing" in Greek, it is characterized by profound prenatal-onset dwarfism (resulting in an adult height of less than 85 cm), joint hypermobility, distinctive facial features, and mild intellectual disability. Symptoms Anauxetic dysplasia is an extremely rare, genetic form of dwarfism. The condition is primarily characterized by severe prenatal-onset short stature, disproportionately short limbs, joint hypermobility, distinct facial features, and mild intellectual disability. The key symptoms and physical characteristics associated with the condition include: Extreme short stature: Affected individuals typically have an adult height of less than one meter. Disproportionate limbs: Arms and legs are unusually short relative to the torso, present even before birth. Spinal issues: Abnormal curvature of the upper and lower spine (kyphoscoliosis and hyperlordosis...
Post a Comment
Read more

Peroxisomal acyl-CoA oxidase deficiency

Peroxisomal acyl-CoA oxidase deficiency Overview Peroxisomal acyl-CoA oxidase deficiency is a rare inherited disorder that causes severe neurodegeneration, weak muscle tone, and seizures starting in infancy. Caused by mutations in the \(ACOX1\) gene, it leads to a toxic accumulation of very long-chain fatty acids and is typically fatal in early childhood. Symptoms Peroxisomal acyl-CoA oxidase deficiency is a rare, inherited neurodegenerative disorder. It primarily presents in infancy with weak muscle tone (hypotonia), recurrent seizures, and distinctive facial features (such as widely spaced eyes and a low nasal bridge). While some developmental milestones are initially achieved, a devastating loss of skills typically follows. A structured breakdown of the symptoms includes: Early / Neonatal Symptoms (From Birth) Neurological: Severe neonatal hypotonia (weak muscle tone) and neonatal seizures. Facial Dysmorphism: Distinct features like a depressed/low nasal bridge, widely spaced eyes ...
Post a Comment
Read more