Hereditary Spastic Paraplegia

Physical Examination

Inspection

• Reduced lower limb muscle bulk, particularly distally

• Presence of assistive devices (e.g., cane, walker)

Motor Examination

Tone

• Increased tone in lower limbs, particularly the legs ("spasticity")

Power

• Mild weakness, usually distally (e.g., foot dorsiflexors)

Reflex

• Hyperreflexia in lower limbs

• Positive Babinski's sign

Cerebellar Examination

• Generally normal, as this condition typically spares the cerebellar system

Sensory Examination

Soft touch and Pin prick

• Generally preserved, as this condition primarily affects motor pathways

Vibration and Proprioception

• Could be impaired in complicated forms of HSP

Additional Examination if Required

• Romberg's test to assess proprioceptive function

• Examination of the upper limbs for possible subtle signs of involvement

• Examination of the eyes for associated findings in some variants (like optic atrophy)

• Assess for urinary symptoms suggestive of a neurogenic bladder

• Spastic gait evaluation

Investigations

Laboratory Investigations

• Full blood count, renal function test, liver function test

• Serum B12 and Folate levels: Deficiency can lead to subacute combined degeneration of the cord, which can mimic HSP.

• Thyroid function tests: To rule out any underlying metabolic causes.

• Genetic testing: To identify the specific genetic mutation causing HSP.

Imaging

• MRI Spine: To rule out any structural causes like spinal cord compression.

• MRI Brain: In case of complicated HSP, to rule out brain abnormalities.

Invasive

• Lumbar puncture: If considering differential diagnoses such as inflammatory or infectious causes.

Other Tests

• Electromyography (EMG) and nerve conduction studies: To assess the extent of neuronal damage.

• Urodynamic studies: If there are symptoms suggestive of neurogenic bladder.

• Visual evoked potentials: In case of complicated HSP with visual symptoms, to assess for optic nerve involvement.

Management

General Management

• Physical therapy: Improve mobility and muscle strength.

• Occupational therapy: Support daily activities and independence.

• Regular exercise: Maintain muscle strength and general health.

• Diet advice: Adequate nutrient intake, manage weight.

• Psychological support: Dealing with the emotional impact of chronic illness.

Medical

• Baclofen or Tizanidine: Reduce spasticity.

• Gabapentin or Pregabalin: Manage neuropathic pain.

• Anticholinergics (e.g., Oxybutynin): Manage urinary symptoms.

• Laxatives and dietary changes: Manage constipation.

Surgical

• Intrathecal baclofen pump: In severe spasticity not responsive to oral medications.

• Orthopedic surgery: Correct skeletal deformities if present.

• Urological interventions: If medical management fails for bladder dysfunction.

Other

• Regular follow-ups: Monitor progression and adapt management as needed.

• Genetic counselling: If planning for future children.

• Vocational guidance: Support career choices given physical limitations.

Spastic Paraplegia with normal sensory level

• Hereditary spastic paraplegia

• UMN type of Motor neurone disease

• Parasagittal meningioma

• Syringomyelia