Hereditary Spastic Paraplegia Differential Diagnoses

  • Author: Nam-Jong Paik, MD, PhD; more...
 
Updated: Jan 6, 2012
 
 

Diagnostic Considerations

Failure to rule out reversible forms of spinal cord lesions (mechanical cord compression or spinal cord tumor) when considering a diagnosis of hereditary spastic paraplegia (HSP) invites problems.

Conditions to consider in the differential diagnosis of HSP include the following:

  • Hereditary motor-sensory neuropathy type 5
  • Spondylosis
  • Atlantoaxial canal stenosis
  • Arteriovenous malformation compressing spinal cord
  • Arnold-Chiari syndrome
  • Tethered cord
  • Neoplasm
  • Granuloma
  • Spinocerebellar ataxias
  • Adrenomyeloneuropathy
  • Deficiency of vitamins B-12 and E
  • Abetalipoproteinemia
  • Mitochondrial disorders
  • Human T-cell lymphocytotrophic virus infection
  • Toxins
  • Stiff-limb syndrome

Differential Diagnoses

Proceed to Workup
 
 
Contributor Information and Disclosures
Author

Nam-Jong Paik, MD, PhD  Chair, Department of Rehabilitation Medicine, Seoul National University Bundang Hospital; Professor, Department of Rehabilitation Medicine, Seoul National University College of Medicine

Nam-Jong Paik, MD, PhD is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Coauthor(s)

Jae-Young Lim, MD, PhD  Associate Professor, Seoul National University College of Medicine, Seoul National University Bundang Hospital, South Korea

Jae-Young Lim, MD, PhD is a member of the following medical societies: American Association of Neuromuscular and Electrodiagnostic Medicine

Disclosure: Nothing to disclose.

Additional Contributors

Kat Kolaski, MD Assistant Professor, Departments of Orthopedic Surgery and Pediatrics, Wake Forest University School of Medicine

Kat Kolaski, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine and American Academy of Physical Medicine and Rehabilitation

Disclosure: Nothing to disclose.

Teresa L Massagli, MD Professor of Rehabilitation Medicine and Pediatrics, University of Washington School of Medicine

Teresa L Massagli, MD is a member of the following medical societies: American Academy of Pediatrics, American Academy of Physical Medicine and Rehabilitation, and Association of Academic Physiatrists

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

References
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Photograph of a 16-year-old girl with complicated hereditary spastic paraplegia. She has a spastic gait disturbance, mental retardation, and extrapyramidal symptoms. Note the dysmorphic features.
Dysmorphic appearance of a 16-year-old girl with complicated hereditary spastic paraplegia. This patient displays a short stature (145 cm) and hair loss. Anterior (left), lateral (middle), and posterior (right) views are shown.
General appearance of sisters with complicated hereditary spastic paraplegia. They are aged 16 and 17 years. Physical examination revealed increased deep tendon reflexes in all 4 extremities, with an extensor plantar reflex. Sensory losses in the patients have affected mainly their joint positions and vibration sensations.
 
 
 
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