Sep 27, 2019

The participant first developed symptoms at age 26, though it is possible that there were some symptoms earlier in her life as well. During a period of intense stress, she suddenly had difficulty speaking (dysarthria), muscle weakness, difficulty walking, poor coordination and muscle spasms. At this time, she also developed depression, anxiety and sleep disturbances along with her physical symptoms.

After a few months of persistent symptoms, she had a neurologic evaluation which revealed visual loss, absent reflexes and a brain abnormality (cerebellar atrophy). She has been evaluated by many specialists and has tried physical therapy and acupuncture without any change to her symptoms.

Clinicians suspect an autoimmune or inflammatory cause for the participant’s symptoms because of testing that showed teased nerve fiber internodal variability.

• Brain abnormality (cerebellar atrophy)
• Visual loss
• Retinal disorder (pigmentary retinopathy)
• Difficulty speaking (dysarthria)
• Difficulty swallowing (dysphagia)
• Difficulty controlling muscle movements (ataxia)
• Muscle spasm
• Tremor
• Burning/prickling sensation (paresthesia)
• Damaged nerves in hands and feet (peripheral neuropathy)

• Acupuncture
• Diazepam – muscle spasms
• Methocarbamol – muscle spasms
• Physical therapy
• Propranolol – tremor
• Tizanidine – muscle spasms

• Autoimmune disorder
• Endocrine disorder
• Friedrich’s ataxia
• Metabolic condition
• Mitochondrial disorder
• Spinocerebellar ataxia