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T1-weighted sagittal MRI brain scan demonstrating high signal (fat intensity) in the posterior corpus callosum. (Contributed by Dr. Robert Grant.)
May. 26, 2021
Childhood Degenerative & Metabolic Disorders
Pelizaeus-Merzbacher disease and the allelic disorder spastic paraplegia 2 (SPG2) are hereditary leukodystrophies caused by mutations of the PLP1 gene. The nature of the mutation plays an important role in determining the cellular effects on oligodendrocytes, disease severity, and pattern of inheritance. The clinical syndromes range from the severe connatal Pelizaeus-Merzbacher disease syndrome, characterized by congenital hypotonia, nystagmus, and stridor, to an uncomplicated spastic paraparesis syndrome.
Dec. 26, 2019
Nov. 05, 2020
Classic chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) consists of a symmetrical proximal and distal weakness with variable sensory symptoms that exhibits either a relapsing, stepwise progressive or steadily progressive course. Aside from limb weakness, patients often have fatigue, numbness, tingling, or tight sensation in their extremities. Painful symptoms include burning, aching, tenderness, or jabbing feelings.
Aug. 06, 2021
Mar. 16, 2021
Neurologic signs of lumbosacral plexus injuries consist of motor deficit with flaccid paralysis associated with sensory deficits to all types of stimulation in the territory of the damaged nerve roots, or lower motor neuron paralysis. Nonstructural causes include radiation therapy, diabetes, vasculitis, and perivasculitis, while traumatic causes are mainly due to fractures of the pelvic ring or acetabulum and hip joint replacements.
Aug. 09, 2021
Central alveolar hypoventilation, a disorder of impaired ventilatory response to hypercapnia and hypoxemia, may be congenital, acquired, or idiopathic. The underlying neurologic disorder involves an absent or reduced response to carbon dioxide resulting in hypercapnia and hypoxemia. Patients exhibit hypoventilation, which is generally worsened in sleep, and they may also suffer from varying degrees of dysautonomia.
Sep. 12, 2021
X-linked myotubular (centronuclear) myopathy is a severe muscle disorder mainly affecting newborn boys, but sometimes it can also affect girls. Diagnostic
Mar. 24, 2021