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Spasmodic dysphonia, also known as laryngeal dystonia, is a disorder in which the muscles that generate a person's voice go into periods of spasm. [1] [2] This results in breaks or interruptions in the voice, often every few sentences, which can make a person difficult to understand. [1]
Patients with hereditary motor and sensory neuropathies are diagnosed through a physical evaluation that looks for muscle atrophy, weakness, and sensory responses. [3] In addition to this, electromyography and motor nerve conduction tests can help clinicians decide what type of motor and sensory neuropathy it is and how severe the disease is.
Hereditary neuropathy with liability to pressure palsy (HNPP) is a peripheral neuropathy, a condition that affects the nerves. [4] Pressure on the nerves can cause tingling sensations, numbness, pain, weakness, muscle atrophy and even paralysis of the affected area. In normal individuals, these symptoms disappear quickly, but in sufferers of ...
It is allelic (i.e., caused by mutations on the same gene) with Charcot–Marie–Tooth disease and with Silver’s Syndrome, a disorder also characterized by small muscle atrophy in the hands. [1] [7] Another rare form of dHMN V is associated with a splicing mutation in REEP-1, a gene often associated with hereditary spastic neuroplegia. [8]
Essential tremor (ET), also called benign tremor, familial tremor, and idiopathic tremor, is a medical condition characterized by involuntary rhythmic contractions and relaxations (oscillations or twitching movements) of certain muscle groups in one or more body parts of unknown cause. [6]
Head and hand tremor 8q SCA17 CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 (KCND3 [24]) Mild cerebellar syndrome, dysarthria SCA25: 1.5–39 yrs Unknown ataxia with sensory neuropathy, vomiting and gastrointestinal pain. 2p SCA27 [25] (FGF14 [24]) 15–20 yrs Unknown ataxia with poor cognition, dyskinesias and tremor. FGF14 13q34 SCA35 ...
The joints may also make sounds because of damage to or irregularity in the joint surface or internal structure of the joint, says Lawrie. People with arthritis usually experience this type of ...
Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5.