What types of rare diseases that have been diagnosed and managed in Indonesia?

By : Dr. dr. Damayanti Rusli Sjarif, Sp.A(K), dr. Klara Yuliarti, Sp.A(K), dr. Cut Nurul Hafifah, Sp.A, dan dr. Dimple Gobind Nagrani, Sp.A

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans. These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue.

Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners. If PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
Tetrahydrobiopterin deficiency is a rare disorder characterized by a shortage (deficiency) of a molecule called tetrahydrobiopterin or BH4. This condition alters the levels of several substances in the body, including phenylalanine. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in foods that contain protein and in some artificial sweeteners. High levels of phenylalanine are present from early infancy in people with untreated tetrahydrobiopterin deficiency. This condition also alters the levels of chemicals called neurotransmitters, which transmit signals between nerve cells in the brain.
Niemann-Pick disease is a condition that affects many body systems. It has a wide range of symptoms that vary in severity, including enlarged liver and spleen, failure to thrive, psychomotor regression, . Niemann-Pick disease is divided into four main types: type A, type B, type C1, and type C2. Children with Niemann-Pick disease type A also develop widespread lung damage (interstitial lung disease) that can cause recurrent lung infections and eventually lead to respiratory failure. All affected children have an eye abnormality called a cherry-red spot, which can be identified with an eye examination. Children with Niemann-Pick disease type A generally do not survive past early childhood, while people with Niemann-Pick disease type B usually survive into adulthood. People with Niemann-Pick disease type C usually develop difficulty coordinating movements (ataxia), an inability to move the eyes vertically (vertical supranuclear gaze palsy), poor muscle tone (dystonia), severe liver disease, and interstitial lung disease. Individuals with Niemann-Pick disease types C1 and C2 have problems with speech and swallowing that worsen over time, eventually interfering with feeding. Affected individuals often experience progressive decline in intellectual function and about one-third have seizures. People with these types may survive into adulthood.
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.
Maple syrup urine disease is an inherited disorder in which the body is unable to process certain protein building blocks (amino acids) properly. The condition gets its name from the distinctive sweet odor of affected infants' urine and is also characterized by poor feeding, vomiting, lack of energy (lethargy), and developmental delay. If untreated, maple syrup urine disease can lead to seizures, coma, and death.
Isovaleric acidemia is a rare disorder in which the body is unable to process certain proteins properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.
Homocystinuria is an inherited disorder in which the body is unable to process certain building blocks of proteins (amino acids) properly. There are multiple forms of homocystinuria, which are distinguished by their signs and symptoms and genetic cause. The most common form of homocystinuria is characterized by nearsightedness (myopia), dislocation of the lens at the front of the eye, an increased risk of abnormal blood clotting, and brittle bones that are prone to fracture (osteoporosis) or other skeletal abnormalities. Some affected individuals also have developmental delay and learning problems.
Neonatal hemochromatosis is a disorder affecting fetuses and newborns. It is characterized by liver disease associated with the accumulation of excess iron in the liver and other areas of the body. Although the exact cause of the disorder is not fully understood, researchers believe most cases of neonatal hemochromatosis result from maternal fetal alloimmunity, a condition in which antibodies from the mother travel over the placenta and mistakenly attack the fetus. Some severe cases result in stillbirth, while live born infants with neonatal hemochromatosis typically show signs within 48 hours of birth. There is a high risk of recurrence in subsequent pregnancies of women who have had a child with neonatal hemochromatosis.
Congenital adrenal hyperplasia (CAH) refers to a group of genetic conditions that affect the adrenal glands. These glands sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Affected people lack an enzyme the adrenal glands need to make one or more of these hormones and often overproduce androgens (male hormones such as testosterone).[1] The signs and symptoms present in each person depend on many factors including the type of CAH, the age of diagnosis, and the sex of the affected person. For example, females with a severe form of the condition may have ambiguous genitalia at birth and if not properly diagnosed, develop dehydration, poor feeding, diarrhea, vomiting and other health problems soon after.
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. People with this condition have bones that break easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. There are at least eight recognized forms of osteogenesis imperfecta, designated type I through type VIII. The types can be distinguished by their signs and symptoms, although their characteristic features overlap. Type I is the mildest form of osteogenesis imperfecta and type II is the most severe.
Turner syndrome is a chromosomal condition that affects development in females. The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is also very common. The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). About 30 percent of females with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One third to one half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery leaving the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta with the heart (the aortic valve). Most girls and women with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
Primary immunodeficiency diseases (PI) are a group of more than 300 rare, chronic disorders in which part of the body’s immune system is missing or functions improperly. While not contagious, these diseases are caused by hereditary or genetic defects, and, although some disorders present at birth or in early childhood, the disorders can affect anyone, regardless of age or gender. Because one of the most important functions of the normal immune system is to protect us against infection, patients with PI commonly have an increased susceptibility to infection. The infections may be in the skin, the sinuses, the throat, the ears, the lungs, the brain or spinal cord, or in the urinary or intestinal tracts, and the increased vulnerability to infection may include repeated infections, infections that won’t clear up or unusually severe infections.
Pulmonary hypertension is high blood pressure in the blood vessels that supply the lungs (pulmonary arteries). It's a serious condition that can damage the right side of the heart. The walls of the pulmonary arteries become thick and stiff, and can't expand as well to allow blood through. The reduced blood flow makes it harder for the right-hand side of the heart to pump blood through the arteries. If the right-hand side of your heart has to continually work harder, it can gradually become weaker. This can lead to heart failure. Pulmonary hypertension is a rare condition that can affect people of all ages, but it's more common in people who have another heart or lung condition.
Kawasaki disease is a rare condition that mainly affects children under the age of five. It's also known as mucocutaneous lymph node syndrome. The characteristic symptoms are a high temperature that lasts for more than five days, with:
a rash, swollen glands in the neck, dry cracked lips, red fingers or toes, red eyes. After a few weeks the symptoms become less severe, but may last longer. At this stage, the affected child may have peeling skin on their fingers and toes
Lennox-Gastaut syndrome is a form of severe epilepsy that begins in childhood. It is characterized by multiple types of seizures and intellectual disability. People with Lennox-Gastaut syndrome begin having frequent seizures in early childhood, usually between ages 3 and 5. More than three-quarters of affected individuals have tonic seizures, which cause the muscles to stiffen (contract) uncontrollably. These seizures occur most often during sleep. Also common are atypical absence seizures, which cause a partial or complete loss of consciousness. Additionally, many affected individuals have drop attacks, which are sudden episodes of weak muscle tone.
Almost all children with Lennox-Gastaut syndrome develop learning problems and intellectual disability associated with their frequent seizures. Because the seizures associated with this condition are difficult to control with medication, the intellectual disability tends to worsen with time.

  • Rett syndrome
This syndrome is a rare genetic nerve disorder that mostly affects females. The symptoms can be seen from children ages 2 years old. At the beginning, Rett Syndrome is often misdiagnosed as autism. Rett syndrome affects muscle and coordination, therefore the patient can be seen to have a peculiar gait and repetitive hand movements (clapping, squeezing, and washing hand movements).
  • Hemophilia


  • Infantile spasm
Infantile spasm is one of an epileptic syndrome that is genetic and happens to children under the age of 1 years old. The symptoms of infantile spasm is muscle spasms ot rigidity on the neck, back and extremities that normally appear at the age of 3 – 4 months. This rare disease may also cause intractable seizure and severe mental retardation in the future.
  • Scleroderma
This genetic rare disease is autoimmune in nature that is marked by a hardening and thickening of skin around the face, hands and legs. Besides that, this process of hardeining and thickening may also happen in the internal organs such as the lungs, kidneys, heart, intestines due to an over production of collagen. The most common symptoms are difficulty in movement and pain due to the hardening.
  • Tuberous clerosis
This genetic rare disease causes the production of multiple small tumors that may look like pimples on the skin, brain, kidneys, heart, eyes and lungs. This tumor, although benign in nature, still causes a few symptoms such as a difference in skin colour, difficulty to breathe, heart rhythm disturbances, kidney failure, behavioral and intellectual abnormalities, developmental delay and seizure.
  • Trisomy 18
This disease is due to an error in the number of chromosomes, that is, there are 3 in stead of 2 copies of the chromosome 18. This disease is also known as Edward Syndrome. There are a few signs and symptoms of this genetic disease, such as a cleft palate, hole in the heart, abnormal chest shape, small head circumference, small jaws, delayed growth and development. Normally, this disease can already be diagnosed during pregnancy through an ultrasound examination.
  • Guillain Barre syndrome
This etiology of this rare disease is autoimmune that attacks the peripheral nerves. The most common symptom is paralysis or weakness on both sides of the body which travels from the lower extremities to the upper up to the muscles of the eye. The other symptoms caused by this paralysis is difficulty in swallowing, breathing, speaking, digesting, reduction in sight, hypertension, and abnormalities in heart rhythm.
  • Myastenia Gravis
This is an autoimmune rare disease that is due to the disturbance in communication between the nerve and the muscle. One of the common symptoms is the difficulty to open one or both eyelids, double vision, limited facial expression, a change in quality of voice, difficulty in swallowing, speaking, breathing and to carry out daily activities due to muscle weakness in the face, eye, neck, upper and lower extremities.
  • Duchenne Muscular Dystrophy
This rare genetic disease most often affects male children. Muscle dystrophy causes weakness and motoric regression that appears in male children before 6 years old. Muscles of the back, upper and lower extremities are most often affected. With time, heart and respiratory muscles will also be affected. One of the common symptoms is a history of frequent falls and the inability to stand back up from a sitting to a standing position.
  • Spinal Muscular Atrophy
This rare genetic disease causes muscle weakness due to disturbance in the nervous system that controls voluntary muscle movements. There are 4 types of SMA, i.e. type 1 to type 4. Symptoms of SMA type 1 may appear since in the uterus through ultrasonography, which is reduced fetal movement. Types 2 to 4 have variable age of onsets, from infancy up to adolescence. Symptoms include difficulty in breathing, weakness of the legs, muscles twitches that causes difficulty in standing and walking.
  • Alport syndrome
This rare genetic syndrome causes abnormalities in the collagen or connective tissue. Alport syndrome is characterized by kidney disorders that can result in conditions of kidney failure, hearing loss and eye abnormalities such as cataracts. The symptoms of red urine (blood in urine) can be seen in a very young age. Other symptoms that often arise are abdominal pains, shortness of breath and recurrent cough.
  • Mucormycosis
This rare contagious disease is also known as zygomycosis and is caused due to a fungal infection. Mucormycosis mainly affects people with weakened immune systems and may occur in any part of the body. Signs and symptoms of this disease depend on the part of the body that is infected.  
  • Aspergilosis
This contagious disease is rare and transmitted through the air that can cause symptoms if inhaled by patients who have a weak body defense system. Aspergillus is a type of fungus that can cause respiratory tract symptoms: cough, shortness of breath, fever, chest pain and recurrent bleeding cough. The disease is treated with anti-fungal treatment. Some experts believe that genetic factors play a role in someone who is infected with aspergilosis.
  • Cystic fibrosis
This rare genetic disease affects the movement of water and salt in the body’s cells causing the mucus in the body to become thick and sticky so that it may cause a blockage in the vessels. The most common symptoms experienced by patients with cystic fibrosis are prolonged cough, shortness of breath, wheezing, impaired digestion, liver disorders, etc.
  • Nephrogenic Diabetes Insipidus
Patients with this rare disease often feel thirsty and urinate. This disease is caused because the kidneys can not respond to a hormone, called, antidiuretic hormone (ADH). This hormone regulates the amount of fluid in the body. As a result, the kidneys excrete urine in large amounts without being able to concentrate the urine. Patients try to balance the amount of fluid lost with thirst and drink more. This disease can be caused due to decreased renal function or genetically.
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