| Condition | Indicated | Relationship Strength | Studies | Trials |
|---|
Bovine Spongiform Encephalopathy
[description not available] | 0 | 2.41 | 1 | 0 |
Drug Refractory Epilepsy
[description not available] | 0 | 5.52 | 2 | 2 |
Carbohydrate Metabolism, Inborn Error
[description not available] | 0 | 11.17 | 21 | 2 |
Absence Seizure Disorder
[description not available] | 0 | 4.72 | 1 | 1 |
Absence Seizure
[description not available] | 0 | 10.67 | 44 | 1 |
Epilepsy, Absence
A seizure disorder usually occurring in childhood characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736) | 0 | 4.72 | 1 | 1 |
Seizures
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or seizure disorder. | 0 | 10.67 | 44 | 1 |
Lipid Metabolism, Inborn Error
[description not available] | 0 | 11.68 | 22 | 10 |
Cardiomyopathies, Primary
[description not available] | 0 | 8.59 | 8 | 5 |
Critical Illness
A disease or state in which death is possible or imminent. | 0 | 2.41 | 1 | 0 |
Cardiomyopathies
A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). | 0 | 8.59 | 8 | 5 |
Acetonemia
[description not available] | 0 | 3.01 | 2 | 0 |
Rhabdomyolysis
Necrosis or disintegration of skeletal muscle often followed by myoglobinuria. | 0 | 14.25 | 10 | 5 |
Ataxia with Lactic Acidosis 2
[description not available] | 0 | 2.59 | 2 | 0 |
Deficiency, Muscle Phosphorylase
[description not available] | 0 | 3.59 | 1 | 1 |
Glycogen Storage Disease Type V
Glycogenosis due to muscle phosphorylase deficiency. Characterized by painful cramps following sustained exercise. | 1 | 5.59 | 1 | 1 |
Ataxia
Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions. | 0 | 2.25 | 1 | 0 |
Bewilderment
[description not available] | 0 | 2.25 | 1 | 0 |
Dysarthosis
[description not available] | 0 | 2.25 | 1 | 0 |
Dystonia
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77) | 0 | 2.25 | 1 | 0 |
Lassitude
[description not available] | 0 | 2.25 | 1 | 0 |
Fatigue
The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli. | 0 | 2.25 | 1 | 0 |
Degenerative Diseases, Central Nervous System
[description not available] | 0 | 3.17 | 1 | 0 |
Diseases, Metabolic
[description not available] | 0 | 3.6 | 2 | 0 |
Metabolic Diseases
Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed) | 0 | 3.6 | 2 | 0 |
Neurodegenerative Diseases
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures. | 0 | 8.17 | 1 | 0 |
Glycogenosis
[description not available] | 0 | 7.8 | 5 | 4 |
Nervous System Disorders
[description not available] | 0 | 9.56 | 9 | 8 |
Glycogen Storage Disease
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement. | 0 | 7.8 | 5 | 4 |
Nervous System Diseases
Diseases of the central and peripheral nervous system. This includes disorders of the brain, spinal cord, cranial nerves, peripheral nerves, nerve roots, autonomic nervous system, neuromuscular junction, and muscle. | 0 | 9.56 | 9 | 8 |
Adult Spinal Muscular Atrophy
[description not available] | 0 | 2.25 | 1 | 0 |
Happy Puppet Syndrome
[description not available] | 0 | 2.25 | 1 | 0 |
Muscular Atrophy, Spinal
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089) | 0 | 2.25 | 1 | 0 |
Angelman Syndrome
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence happy); jerky puppetlike movements (hence puppet); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35) | 0 | 2.25 | 1 | 0 |
Fasting Hypoglycemia
HYPOGLYCEMIA expressed in the postabsorptive state, after prolonged FASTING, or an overnight fast. | 0 | 4.62 | 1 | 1 |
Hypoglycemia
A syndrome of abnormally low BLOOD GLUCOSE level. Clinical hypoglycemia has diverse etiologies. Severe hypoglycemia eventually lead to glucose deprivation of the CENTRAL NERVOUS SYSTEM resulting in HUNGER; SWEATING; PARESTHESIA; impaired mental function; SEIZURES; COMA; and even DEATH. | 0 | 4.62 | 1 | 1 |
Disease Models, Animal
Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases. | 0 | 6.81 | 15 | 0 |
Acute Confusional Senile Dementia
[description not available] | 0 | 2.54 | 2 | 0 |
Alzheimer Disease
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57) | 0 | 2.54 | 2 | 0 |
Electron Transport Chain Deficiencies, Mitochondrial
[description not available] | 0 | 3.98 | 4 | 0 |
Muscle Disorders
[description not available] | 0 | 2.57 | 2 | 0 |
Bone Marrow Failure Syndromes, Congenital
[description not available] | 0 | 2.57 | 2 | 0 |
Muscular Diseases
Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. | 0 | 2.57 | 2 | 0 |
Mitochondrial Diseases
Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. | 0 | 3.98 | 4 | 0 |
Brain Diseases, Metabolic, Familial
[description not available] | 0 | 2.31 | 1 | 0 |
Cerebral Infarction, Middle Cerebral Artery
[description not available] | 0 | 2.83 | 3 | 0 |
Cerebral Ischemia
[description not available] | 0 | 2.53 | 2 | 0 |
Brain Ischemia
Localized reduction of blood flow to brain tissue due to arterial obstruction or systemic hypoperfusion. This frequently occurs in conjunction with brain hypoxia (HYPOXIA, BRAIN). Prolonged ischemia is associated with BRAIN INFARCTION. | 0 | 2.53 | 2 | 0 |
Infarction, Middle Cerebral Artery
NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction. | 0 | 2.83 | 3 | 0 |
Luft Disease
[description not available] | 0 | 7.58 | 4 | 4 |
Mitochondrial Myopathies
A group of muscle diseases associated with abnormal mitochondria function. | 0 | 7.58 | 4 | 4 |
Hemiplegia, Crossed
[description not available] | 0 | 7.58 | 4 | 4 |
Hemiplegia
Severe or complete loss of motor function on one side of the body. This condition is usually caused by BRAIN DISEASES that are localized to the cerebral hemisphere opposite to the side of weakness. Less frequently, BRAIN STEM lesions; cervical SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; and other conditions may manifest as hemiplegia. The term hemiparesis (see PARESIS) refers to mild to moderate weakness involving one side of the body. | 0 | 7.58 | 4 | 4 |
Nerve Degeneration
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways. | 0 | 2.17 | 1 | 0 |
Absence Status
[description not available] | 0 | 2.54 | 2 | 0 |
Status Epilepticus
A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30) | 0 | 7.54 | 2 | 0 |
Diathesis
[description not available] | 0 | 3.45 | 2 | 0 |
Encephalomyopathies, Mitochondrial
[description not available] | 0 | 2.21 | 1 | 0 |
Akinetic-Rigid Variant of Huntington Disease
[description not available] | 0 | 10.53 | 20 | 4 |
Huntington Disease
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive CHOREA and DEMENTIA in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; DEPRESSION; HALLUCINATIONS; and DELUSIONS. Eventually intellectual impairment; loss of fine motor control; ATHETOSIS; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including SEIZURES; ATAXIA; dementia; and chorea. (From Adams et al., Principles of Neurology, 6th ed, pp1060-4) | 1 | 12.53 | 20 | 4 |
Aura
[description not available] | 0 | 6.6 | 5 | 0 |
Epilepsy
A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy). (From Adams et al., Principles of Neurology, 6th ed, p313) | 0 | 6.6 | 5 | 0 |
ACY2 Deficiency
[description not available] | 0 | 2.1 | 1 | 0 |
Canavan Disease
A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29(2):463-71) | 0 | 7.1 | 1 | 0 |
Weight Gain
Increase in BODY WEIGHT over existing weight. | 0 | 2.11 | 1 | 0 |
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
[description not available] | 0 | 2.1 | 1 | 0 |
Rett Syndrome
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199) | 1 | 4.1 | 1 | 0 |
Body Weight
The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms. | 0 | 2.11 | 1 | 0 |
Apoplexy
[description not available] | 0 | 2.11 | 1 | 0 |
Stroke
A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810) | 0 | 7.11 | 1 | 0 |
Left Ventricular Hypertrophy
[description not available] | 0 | 2.11 | 1 | 0 |
Hypertrophy, Left Ventricular
Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality. | 0 | 2.11 | 1 | 0 |
Chorea Disorders
[description not available] | 0 | 7.55 | 4 | 4 |
Chorea
Involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement. Hypotonia and pendular reflexes are often associated. Conditions which feature recurrent or persistent episodes of chorea as a primary manifestation of disease are referred to as CHOREATIC DISORDERS. Chorea is also a frequent manifestation of BASAL GANGLIA DISEASES. | 0 | 7.55 | 4 | 4 |
Liver Steatosis
[description not available] | 0 | 2.76 | 3 | 0 |
Fatty Liver
Lipid infiltration of the hepatic parenchymal cells resulting in a yellow-colored liver. The abnormal lipid accumulation is usually in the form of TRIGLYCERIDES, either as a single large droplet or multiple small droplets. Fatty liver is caused by an imbalance in the metabolism of FATTY ACIDS. | 0 | 2.76 | 3 | 0 |
ALS - Amyotrophic Lateral Sclerosis
[description not available] | 0 | 3.46 | 2 | 0 |
Weight Reduction
[description not available] | 0 | 2.13 | 1 | 0 |
Amyotrophic Lateral Sclerosis
A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts. (From Adams et al., Principles of Neurology, 6th ed, pp1089-94) | 1 | 10.46 | 2 | 0 |
Weight Loss
Decrease in existing BODY WEIGHT. | 0 | 2.13 | 1 | 0 |
Genetic Predisposition
[description not available] | 0 | 4.9 | 4 | 0 |
Acute Disease
Disease having a short and relatively severe course. | 0 | 2.07 | 1 | 0 |
Convulsive Generalized Seizure Disorder
[description not available] | 0 | 3 | 1 | 0 |