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Abetalipoproteinemia Learning Center
Symptoms could include:
- Diarrhea
- Vomiting
- Night Blindness
- Muscle Wasting
- Visual Disturbance
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Motor Dysfunction
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Failure to Gain Weight
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Loss of Peripheral Vision
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Sensory Disorders
- Ataxia
- Impaired Sensation
- Uncontrolled Eye Mo...
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Child Not Growing
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Decreased Skin Sensitivity
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Impaired Touch Discrimination
- Loss of Eye Motion
- Anemia
- Muscle Weakness
- Failure to Thrive
- Developmental Delay
- Slurred Speech
- Clubfoot
- Loss of Appetite
- Mild Mental Retarda...
- Spinal Curvature
- Skeletal Deformity
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Balance and coordination difficulties; Curvature of spine; Decreased vision that gets worse over time; Developmental delay; Failure to thrive (grow) in infancy; Muscle weakness; Poor muscle coordination that usually develops after age 10; Protrudi...
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Too much fat left unabsorbed in the intestine results in the symptoms that are often noticed first in ABL, such as chronic diarrhea, loss of appetite, vomiting, and slow weight gain and growth due to reduced uptake of nutrients. Various lipids, su...
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Too much fat left unabsorbed in the intestine results in the symptoms that are often noticed first in ABL, such as chronic diarrhea, loss of appetite, vomiting, and slow weight gain and growth due to reduced uptake of nutrients. Various lipids, su...
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Mutations in two genes have been shown to cause Bassen-Kornzweig syndrome: apolipoprotein B (APOB) and microsomal triglyceride transfer protein (MTP). These proteins are an important part of fat-containing molecules called lipoproteins in the bloo...
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Diarrhea is loose, watery, and frequent stool. Diarrhea is considered chronic (long-term) when you have had loose or frequent stools for more than 4 weeks.
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To most persons, diarrhea means an increased frequency or softer consistency of bowel movements; however, the medical definition is more exact than this. Diarrhea best correlates with an increase in stool weight; stool weights above 300 g per day ...
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Vomiting is the forceful discharge of stomach contents through the mouth.
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Night blindness is poor vision at night or in dim light.
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Night blindness is the inability or reduced ability to see in dim light or darkness. It also refers to the condition in which the time it takes for the eyes to adapt to darkness is prolonged.
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Muscle atrophy is the wasting or loss of muscle tissue.
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Visual disturbances are abnormalities of sight. Visual disturbances associated with neurological disorders often include double vision (diplopia), moving or blurred vision due to nystagmus (involuntary rapid movements of the eyes), reduced visual ...
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Uncoordinated movement is muscle control problem or an inability to finely coordinate movements, which results in a jerky, unsteady, to-and-fro motion of the middle of the body (trunk) and unsteady gait (walking style. The condition is called ataxia.
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Ataxia, a medical term originated from the Greek language meaning "without order," refers to disturbances in the control of body posture, motor coordination, speech control, and eye movements. Several brain areas, including the cerebellum and the ...
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Developmental coordination disorder is diagnosed when children do not develop normal motor coordination (coordination of movements involving the voluntary muscles).
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Lack of coordination in the muscles. Ataxia, an extreme lack of coordination of the muscles, is a symptom of damage to the central nervous system. People with ataxia typically stand with feet planted far apart, and sway while standing, struggling ...
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Impaired sensation is often a signal that there something affecting a nerve or the nervous system. Changes in sensations are often subjective and difficult to describe, that is, experienced by the patient but difficult for the provider to diagnose and treat.
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Nystagmus refers to rapid involuntary movements of the eyes that may be: Side to side (horizontal nystagmus; Up and down (vertical nystagmus; Rotary. Depending on the cause, these movements may be in both eyes or in just one eye. The term "dancing...
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Rhythmic, oscillating motions of the eyes are called nystagmus. The to-and-fro motion is generally involuntary. Vertical nystagmus occurs much less frequently than horizontal nystagmus and is often, but not necessarily, a sign of serious brain dam...
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Nystagmus is a condition in which there is involuntary and rhythmic movement or oscillation of the eye. It is often caused by an underlying ocular or neurological disorder.
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Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement. The condition can be caused by any of several neurologic disorders. It may be myopathic, meaning that the muscles controlling eye movement are dire...
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Anemia is a condition in which the body does not have enough healthy red blood cells. Red blood cells provide oxygen to body tissues. Hemoglobin is the oxygen-carrying protein inside red blood cells. It gives red blood cells their red color. Peopl...
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Anemia is a condition characterized by abnormally low levels of healthy red blood cells or hemoglobin.
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Anemia is a blood disorder characterized by abnormally low levels of healthy red blood cells (RBCs) or reduced hemoglobin (Hgb), the iron-bearing protein in red blood cells that delivers oxygen to tissues throughout the body. Reduced blood cell vo...
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Anemia is characterized by an abnormally low number of red blood cells in the circulating blood. It frequently affects patients with cancer. In fact, in many cancer diagnoses such as multiple myeloma and acute leukemia , the presence of anemia may...
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Anemia is a condition characterized by abnormally low levels of healthy red blood cells or hemoglobin (the component of red blood cells that delivers oxygen to tissues throughout the body).
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Deficiency of red cells, or hemoglobin, in the blood. Anemia is a medical condition in which the quantity of red blood cells falls below an acceptable level. Red blood cells, produced in the bone marrow, contain hemoglobin, the component of blood ...
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Anemia is a condition characterized by abnormally low levels of healthy red blood cells or hemoglobin (the component of red blood cells that delivers oxygen to tissues throughout the body).
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Anemia affects more than 30 percent of the world's population, and it is one of the most important worldwide health problems. It has a significant prevalence in both developing and industrialized nations. Causes of anemia include nutritional defic...
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True muscle weakness means that full effort does not produce a normal muscle contraction or movement. A voluntary muscle contraction is generated when the brain sends a signal through the spinal cord and nerves to a muscle.
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Weakness is a reduction in the strength of one or more muscles.
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Failure to thrive is a description applied to children whose current weight or rate of weight gain is significantly below that of other children of similar age and sex.
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Failure to thrive (FTT) is a term used to describe children whose physical growth over time is inadequate when compared to a standard growth chart.
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Failure of an infant, toddler, or child to grow at a normal rate. Related terms include malnutrition, growth hormone deficiency, low birth weight, and short stature. Failure to thrive (FTT) occurs when an infant, toddler, or child fails to grow at...
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Failure to thrive (FTT) is used to describe a delay in a child's growth or development. It is usually applied to infants and children up to two years of age who do not gain or maintain weight as they should. Failure to thrive is not a specific dis...
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Failure to thrive is a term used to describe infants and young children who are not growing or are losing weight due to malnutrition , neglect, abuse, or medical conditions. In failure to thrive, the child may have a low body weight (below the thi...
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A developmental delay is any significant lag in a child's physical, cognitive, behavioral, emotional, or social development, in comparison with norms.
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Any delay in a child's physical, cognitive, behavioral, emotional, or social development, due to any number of reasons. Developmental delay refers to any significant retardation in a child's physical, cognitive, behavioral, emotional, or social de...
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Speech and language impairment may be any of several problems that make it difficult to communicate. See also: Stuttering; Expressive language disorder - developmental.
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Dysarthria is a speech diagnostic term that can be used to classify various types of neuromuscular speech disturbances. Dysarthria results from notable degrees of one or more abnormalities involving speech musculature, including weakness, paralysi...
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Dysarthria is a group of speech impairments due to weakness, incoordination, spasticity, rigidity, or irregular movements caused by damage to the nervous system.
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Clubfoot is when the foot turns inward and downward. It is a congenital condition, which means it is present at birth.
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Clubfoot is a condition in which one or both feet are twisted into an abnormal position at birth. The condition is also known as talipes.
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Clubfoot is a condition in which one or both feet are twisted into an abnormal position at birth. The condition is also known as talipes.
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Clubfoot is a condition in which one or both feet are twisted into an abnormal position at birth. The condition is also known as talipes.
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Clubfoot is a condition in which one or both feet are twisted into an abnormal position at birth. The condition is also known as talipes.
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Anorexia is characterized by a loss of appetite or lack of desire to eat.
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Mental retardation is a condition diagnosed before age 18 that includes below-average general intellectual function, and a lack of the skills necessary for daily living.
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Below-average intellectual abilities that are present before the age of 18 and interfere with developmental processes and with the ability to function normally in daily life (adaptive behavior). The term mental retardation is commonly used to refe...
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Scoliosis is a curving of the spine. The spine curves away from the middle or sideways.
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Scoliosis is a side-to-side curvature of the spine.
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Scoliosis is defined as an abnormal side-to-side or front-to-back curvature of the spine.
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Abnormal curvature of the spine. Beginning in childhood or adolescence, scoliosis curves the spine so that the shape of the body is distorted. The disease can cause pain, deformity, and other medical problems if not properly treated. Scoliosis is ...
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Scoliosis is a side-to-side curvature of the spine of 10 degrees or greater.
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Scoliosis is a side-to-side curvature of the spine.
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Scoliosis is a side-to-side curvature of the spine of 10 degrees or greater.
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Scoliosis is a side-to-side (lateral) curvature of the spine of 10 degrees or greater.
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Skeletal limb abnormalities refer to a variety of bone structure problems in the arms or legs (limbs.
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