10393 San Diego Mission Rd, Suite 120
San Diego, CA 92108-2134
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US Number: +1-619-640-4660
Plain spine radiograph showing "bamboo spine" in ankylosing spondylitis, lateral view. (Provided by Dr. Sudhir Kothari.)
Oct. 14, 2020
Behavioral & Cognitive Disorders
Fragile X syndrome is the most common inherited cause of cognitive impairment in males. The most common problems are cognitive impairment and behavioral disturbances, with 4% to 8% of cognitive impairment or developmental delay caused by fragile X mutation. The clinical severity is directly related to the number of repeats in the FMR1 gene.
Jan. 06, 2021
Headache & Pain
Oct. 11, 2020
Neurofibromatosis 1 is an autosomally dominated inherited genetic condition that predisposes those involved to the development of intracranial neoplasms. Visual pathway gliomas are the most common type of tumor encountered. Clinical manifestations of optic nerve involvement include unilateral or bilateral proptosis, decreased vision in 1 or both eyes, optic nerve pallor, and restricted extraocular movements.
Apr. 02, 2020
Epilepsy & Seizures
Epilepsy with generalized tonic-clonic seizures alone is probably a syndrome of idiopathic/genetic generalized epilepsy but of uncertain boundaries. Onset is usually in late adolescence, and genetic predisposition is common. Generalized onset tonic-clonic seizures may occur at any time, though those happening after awakening are more characteristic and better studied. Prognosis is markedly variable.
Feb. 19, 2020
Childhood Degenerative & Metabolic Disorders
Slowly progressive ophthalmological changes beginning in childhood and leading to blindness in the fifth decade are the characteristics of gyrate atrophy
Aug. 13, 2020
Catatonia is characterized by motor manifestations and mental status changes including posturing, hyperreflexia, immobility, negativism, mutism, and withdrawal. It can be associated with psychiatric conditions such as schizophrenia and affective disorders, or with other medical illnesses.
Sep. 26, 2021
Progressive myoclonic epilepsy type 1 (EPM1) is a progressive myoclonus epilepsy caused by pathogenic, autosomal recessive variants in the cystatin B (CSTB) gene mapped to chromosome 21q22.3. It manifests with action and stimulus-sensitive myoclonus, generalized tonic-clonic seizures, mild and slowly progressive cerebellar ataxia, and cognitive deficits. Diagnosis can be confirmed by appropriate molecular genetic testing.
Feb. 23, 2021