Search results
Results from the WOW.Com Content Network
The first case of the MASA Syndrome was found in a boy in Asia. The patient was a 10-year-old boy with symptoms like, mild mental retardation, bilateral adducted thumbs and corpus callosum hypoplasia. [15] His family did not have any history with MASA syndrome. There is not just one specific doctor or scientist for this disorder.
L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS).
Craniodiaphyseal dysplasia (CDD), also known as lionitis, is an extremely rare autosomal recessive bone disorder that causes calcium to build up in the skull, disfiguring the facial features and reducing life expectancy. These calcium deposits decrease the size of cranial foramina, and can decrease the circumference of the cervical spinal canal ...
Signs and symptoms depend on the specific disease, but motor neuron diseases typically manifest as a group of movement-related symptoms. [6] They come on slowly, and worsen over the course of more than three months. Various patterns of muscle weakness are seen, and muscle cramps and spasms may occur.
Myotonia congenita is a congenital neuromuscular channelopathy that affects skeletal muscles (muscles used for movement). It is a genetic disorder.The hallmark of the disease is the failure of initiated contraction to terminate, often referred to as delayed relaxation of the muscles and rigidity. [1]
Functional weakness is weakness of an arm or leg without evidence of damage or a disease of the nervous system. Patients with functional weakness experience symptoms of limb weakness which can be disabling and frightening such as problems walking or a 'heaviness' down one side, dropping things or a feeling that a limb just doesn't feel normal or 'part of them'.
Medically unexplained physical symptoms (MUPS or MUS) are symptoms for which a treating physician or other healthcare providers have found no medical cause, or whose cause remains contested. [1] In its strictest sense, the term simply means that the cause for the symptoms is unknown or disputed—there is no scientific consensus .
Although there is no cure, surgery is sometimes used to relieve symptoms. [18] Surgery may be necessary to treat misalignment of the hip (osteotomy of the pelvis or the collum femoris) and, in some cases, malformation (e.g., genu varum or genu valgum). [ 19 ]