Table 5.

Treatment of Manifestations in Individuals with AP-4-Associated HSP

Manifestation/
Concern		TreatmentConsiderations/Other
Feeding difficulties & growth failure
  • Nutritional supplementation
  • G-tube feeds
  • Referral to nutritionist
  • Gastrostomy feeding ↓ aspiration risk / provides a reliable route for medication / can improve nutritional status.
Dysphagia G-tube feedsDysphagia-assoc aspiration may → recurrent aspiration pneumonia.
Sialorrhea
  • Anticholinergic drugs
  • Botulinum toxin injections
  • Surgery
Mgmt by an interdisciplinary aerodigestive team
Aspiration
  • Management of secretions
  • G-tube feeds
Pulmonary complications
  • Minimize aspiration risk (see above)
  • Pulmonary toilet
  • Aspiration, pulmonary infections, restrictive lung disease secondary to scoliosis & spasticity
  • Referral to pulmonologist
Bowel dysfunction, chronic constipation, gastroesophageal reflux
  • Stool softeners, prokinetics, osmotic agents, or laxatives as needed
  • Proton pump inhibitors, histamine receptor antagonists, or antacids as needed
  • Consideration of fundoplication in refractory cases
Referral to gastroenterologist
Delayed speech development Speech & language therapySee Developmental Delay / Intellectual Disability Management Issues.
Delayed motor development PT & OT
Spasticity/
Weakness/
Hypotonia
  • PT
  • Antispastic medications such as oral or intrathecal baclofen
  • Botulinum toxin injections
  • Surgical treatment
  • Progression of contractures, scoliosis, & foot deformities may be delayed w/regular physiotherapy & antispastic medications.
  • Consider need for positioning and mobility devices.
  • Monitor skin integrity.
Musculoskeletal ContracturesPT; referral to orthopedic surgery
Scoliosis
Foot deformitiesPT; ankle-foot orthoses; referral to orthopedic surgery
Urinary urgency Anticholinergic drugsReferral to urologist
Epilepsy Standard anti-seizure medicationMost patients respond to standard anti-seizure therapy. 1
Osteopenia Vitamin D & calcium supplementation
Routine health care Standard immunizations per local guidelines
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources & support.
  • Ensure care coordination to manage multiple subspecialty appointments, equipment, medications, & supplies.
Ongoing assessment for need of palliative care involvement &/or home nursing
1.

Education of parents regarding common seizure presentations is appropriate. For information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy Foundation Toolbox.

From: AP-4-Associated Hereditary Spastic Paraplegia

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