| Condition | Indicated | Relationship Strength | Studies | Trials |
|---|
Glycogenosis
[description not available] | 0 | 3.29 | 6 | 0 |
Acid Alpha-Glucosidase Deficiency
[description not available] | 0 | 6.77 | 12 | 2 |
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 | 3.29 | 6 | 0 |
Glycogen Storage Disease Type II
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4) | 0 | 6.77 | 12 | 2 |
Deficiency, Glucosephosphatase
[description not available] | 0 | 2.21 | 1 | 0 |
Cirrhosis, Liver
[description not available] | 0 | 2.21 | 1 | 0 |
Liver Dysfunction
[description not available] | 0 | 2.21 | 1 | 0 |
Amylo-1,6-Glucosidase Deficiency
[description not available] | 0 | 2.41 | 2 | 0 |
Glycogen Storage Disease Type I
An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. | 0 | 2.21 | 1 | 0 |
Liver Cirrhosis
Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules. | 0 | 2.21 | 1 | 0 |
Liver Diseases
Pathological processes of the LIVER. | 0 | 2.21 | 1 | 0 |
Genetic Predisposition
[description not available] | 0 | 2.1 | 1 | 0 |
Cardiomyopathies, Primary
[description not available] | 0 | 2.1 | 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 | 2.1 | 1 | 0 |
Chronic Progressive Multiple Sclerosis
[description not available] | 0 | 2.05 | 1 | 0 |
Acute Relapsing Multiple Sclerosis
[description not available] | 0 | 2.44 | 2 | 0 |
Nervous System Disorders
[description not available] | 0 | 2.05 | 1 | 0 |
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 | 2.05 | 1 | 0 |
Multiple Sclerosis, Chronic Progressive
A form of multiple sclerosis characterized by a progressive deterioration in neurologic function which is in contrast to the more typical relapsing remitting form. If the clinical course is free of distinct remissions, it is referred to as primary progressive multiple sclerosis. When the progressive decline is punctuated by acute exacerbations, it is referred to as progressive relapsing multiple sclerosis. The term secondary progressive multiple sclerosis is used when relapsing remitting multiple sclerosis evolves into the chronic progressive form. (From Ann Neurol 1994;36 Suppl:S73-S79; Adams et al., Principles of Neurology, 6th ed, pp903-914) | 0 | 2.05 | 1 | 0 |
Multiple Sclerosis, Relapsing-Remitting
The most common clinical variant of MULTIPLE SCLEROSIS, characterized by recurrent acute exacerbations of neurologic dysfunction followed by partial or complete recovery. Common clinical manifestations include loss of visual (see OPTIC NEURITIS), motor, sensory, or bladder function. Acute episodes of demyelination may occur at any site in the central nervous system, and commonly involve the optic nerves, spinal cord, brain stem, and cerebellum. (Adams et al., Principles of Neurology, 6th ed, pp903-914) | 0 | 2.44 | 2 | 0 |
Disease Exacerbation
[description not available] | 0 | 2.07 | 1 | 0 |
Sensitivity and Specificity
Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed) | 0 | 2.41 | 2 | 0 |
Pregnancy
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH. | 0 | 1.96 | 1 | 0 |