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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 ...
They experience persistent and painful muscle spasms which are worsened by emotional distress. The twins require the use of wheelchairs for mobility and are unable to speak without the assistance of electronic speaking aids. There is no known cure or treatment. [1] [7] [8] [9] As of 2014, the disease is of unknown etiology. [10]
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.
Gait abnormality is a deviation from normal walking ().Watching a patient walk is an important part of the neurological examination. Normal gait requires that many systems, including strength, sensation and coordination, function in an integrated fashion.
Astasis is the inability to stand or sit up without assistance in the absence of motor weakness or sensory loss (although the inclusion of 'the lack of motor weakness' has been debated by some physicians). It is categorized more as a symptom than an actual disease, as it describes a disruption of muscle coordination resulting in this deficit.
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 ().
Most symptoms of people with post-viral cerebellar ataxia deal to a large extent with the movement of the body. Some common symptoms that are seen are clumsy body movements and eye movements, difficulty walking, nausea, vomiting, and headaches. [citation needed]
It is most visible when shifting position or walking heel-to-toe. [1] As a result of this gait impairment, falling is a concern in patients with ataxia. [3] Truncal ataxia affects the muscles closer to the body such as the trunk, shoulder girdle and hip girdle. It is involved in gait stability. [3] Truncal ataxia is different from appendicular ...