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Ataxia–telangiectasia-like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A–T. Patients with ATLD are very similar to those with A–T in showing progressive cerebellar ataxia, hypersensitivity to ionizing radiation, and genomic instability ...
Ataxia (from Greek α- [a negative prefix] + -τάξις [order] = "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum.
Ataxia with telangiectasia is a rare form ataxia that causes chromosomal instability, sensitivity to ionizing radiation, disrupted stress-activated signal transduction pathways and radioresistant DNA synthesis. [5] The genes that underlie majority of the symptoms for the different types of ataxia are still unknown.
Ataxia telangiectasia results from defects in the ataxia telangiectasia mutated gene, which can cause abnormal cell death in various places of the body, including brain areas related to coordinated movement of the eyes. Patients with ataxia telangiectasia have prolonged vertical and horizontal saccade latencies and hypometric saccades, and ...
Autosomal dominant cerebellar ataxia; Other names: Autosomal dominant spinocerebellar ataxia [1] Autosomal dominant is the manner in which this condition is inherited: Symptoms: Multi system involvement [2] Types: ADCS type1, ADCA type 2, ADCA type 3 [2] Diagnostic method: MRI, CT scan [3] Treatment: Anticonvulsants may be used [2]
The features of this condition include: [citation needed] Facial dysmorphism; Short stature; Mild motor control and learning difficulties; Mild ataxia; Microcephaly; Normal intelligence
Friedreich's ataxia (FRDA) is a rare, inherited, autosomal recessive neurodegenerative disorder that primarily affects the nervous system, causing progressive damage to the spinal cord, peripheral nerves, and cerebellum, leading to impaired muscle coordination . The condition typically manifests in childhood or adolescence, with initial ...
Harding ataxia is an autosomal recessive cerebellar ataxia originally described by Harding in 1981. [1] This form of cerebellar ataxia is similar to Friedreich ataxia including that it results in poor reflexes and balance, but differs in several ways, including the absence of diabetes mellitus, optic atrophy, cardiomyopathy, skeletal abnormalities, and the fact that tendon reflexes in the arms ...