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Hereditary spastic paraplegia

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Hereditary spastic paraplegia

This 18-year-old man with gait difficulty initially presented with symptoms of tip-toe gait at age 3.5 years. The patient showed slow but gradual worsening over 14 years of follow-up. He developed mild speech difficulty after age 13 years. Examination at 18 years of age showed increased deep tendon reflexes in the legs. Plantars were extensor, and gait was typically spastic. Mild dysarthria and dysmetria were evident. All investigations were normal, including electroneuromyography, cranial and spinal MRIs, serum VLCFA, and leucocyte enzymes, and he was diagnosed with pure hereditary spastic paraplegia. (Contributed by Dr. Haluk Topaloglu.)

Associated Disorders

  • CMT
  • CRASH syndrome
  • Distal hereditary motor neuropathy
  • HSN1
  • Infantile onset ascending hereditary spastic paraplegia
  • Juvenile amyotrophic lateral sclerosis
  • Kjellin Syndrome
  • MASA syndrome
  • Machado-Joseph disease
  • Maspardin
  • Mast syndrome
  • NIPA1
  • Pelizaeus-Merzbacher disease
  • Silver syndrome
  • Sjögren Larsson syndrome
  • Spastic ataxia of Charlevoix-Saguenay
  • Spinocerebellar ataxias
  • Troyer syndrome