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The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present. Clinical findings include ataxia, sensory neuropathy, and absence of the vestibulo-ocular reflex. The syndrome was initially described in 2004. [1] In 2019, the cause was identified as biallelic pentanucleotide expansion in the ...
Sensory processing disorder; Other names: Sensory integration dysfunction: An SPD nosology proposed by Miller LJ et al. (2007) [1] Specialty: Psychiatry, occupational therapy, neurology: Symptoms: Hypersensitivity and hyposensitivity to stimuli, and/or difficulties using sensory information to plan movement. Problems discriminating ...
Symptoms of sensory neuropathy may sometimes precede the cancer diagnosis by several months. Immune mediated sensory neuronopathy is commonly associated with Sjogrens syndrome. [5] Sjogren's is most commonly affected by a length dependent axonal sensorimotor neuropathy characterized by symptoms in the extremities.
The signs and symptoms of hereditary sensory neuropathy type 1 typically appear during a person's teens or twenties. While the features of this disorder tend to worsen over time, affected individuals have a normal life expectancy if signs and symptoms are properly treated. Type 1 is the most common form among the 5 types of HSAN.
Palsy of the vocal cords is an important and sometimes initial clinical manifestation of the disorder. A prion of the alpha-synuclein protein within affected neurons may cause MSA. [3] About 55% of MSA cases occur in men, with those affected first showing symptoms at the age of 50–60 years. [4]
This disorder is characterized by the adult-onset triad consisting of the following symptoms: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. MRIS often reveals white matter abnormalities and bilateral thalamus lesions. Other symptoms include generalized myopathy, epilepsy, and deafness. [1] [2]
Mutations in the ATL1 gene are also a common cause of early-onset hereditary spastic paraplegia (HSP) in humans. [34] The disease is characterized by progressive stiffness and contraction in the lower limbs due to damage to or dysfunction of the nerves. The vast majority of HSP-associated mutations are missense mutations that are scattered ...
Symptoms of motor neuron diseases can be first seen at birth or can come on slowly later in life. Most of these diseases worsen over time; while some, such as ALS, shorten one's life expectancy, others do not. [2] Currently, there are no approved treatments for the majority of motor neuron disorders, and care is mostly symptomatic. [2]