Table 5. [Treatment of Manifestations in Individuals with Familial Dysautonomia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Short stature	Growth hormone treatment may be effective & should be considered based on guidelines re height, growth velocity, & bone maturation. ¹	GH stimulation testing may not be reliable. Monitor spinal curvature, as it tends to worsen during accelerated growth.
Neurogenic dysphagia	Per feeding team; for infants, thickened formula & different-shaped nipples to manage oropharyngeal incoordination	Low threshold for gastrostomy tube & Nissen fundoplication to maintain nutritional status & ↓ risk of aspiration
GERD	Upright positioning w/feeds, prokinetic agents, H₂ antagonists, proton pump inhibitors, & gastrostomy w/or w/o fundoplication are appropriate.	A diagnosis of GERD should be confirmed w/esophageal impedance & manometry.
DD / Educational issues	See Developmental Delay / Intellectual Disability Management Issues.
Psychiatric/behavioral issues	By mental health professional	Selective serotonin reuptake inhibitors are sometimes effective in treating anxiety; psychotherapy & behavioral techniques may also help.
Blood pressure instability	Carbidopa is effective in reducing blood pressure variability. ²
Decreased sensitivity to pain	Close attn to decubitus ulcers, burns, & other minor injuries, joint swelling & bone deformity. Signs of local or systemic infection should be monitored & treated w/antibiotics.
Sleep-disordered breathing	CPAP or BiPAP	Due to chemoreflex failure, begin noninvasive ventilation even when sleep-disordered breathing is mild to ↓ risk of sudden unexpected death during sleep. ³
Airway disease	Upper-airway obstruction	Tonsillectomy & adenoidectomy.	If upper-airway obstruction is not resolved, refer to airway mgmt specialist.
Lower-airway disease	Treat suppurative lung disease/bronchiectasis w/daily chest physiotherapy.	Cough augmentation is most effective in clearing airway mucus & best achieved by mechanical insufflation/exsufflation methods. Inhaled hypertonic saline may be beneficial. Treat acute exacerbation promptly w/antibiotics.
Restrictive lung disease	Airway mucus clearance w/manually assisted coughing or mechanical insufflation/exsufflation methods	Consider surgical correction of scoliosis on a case-by-case basis. Surgical complications can be severe; data re respiratory function pre- & post-surgery are lacking.
Acute respiratory exacerbation	Start antibiotics covering aspiration flora promptly, preferably after obtaining sputum culture.	Oral antibiotics for 14 days Initiation of IV antibiotics depends on baseline respiratory status; consider when no improvement after oral antibiotics.
Chronic lung disease	Daily chest physiotherapy (nebulization, bronchodilators, cough augmentation, incentive spirometry, & postural drainage)	Early diagnosis & treatment of pneumonia & infections (secondary to aspiration) Treatment w/oseltamivir is indicated for influenza virus infections. ⁴
Dysautonomic crises	Instructions to manage crises at home w/fluids & medications via gastrostomy Guidance re when to visit ER for more extensive eval & treatment	Careful attn to dehydration & electrolyte imbalance; investigate underlying cause when crises are refractory to treatment or other symptoms are present.
Benzodiazepines ↓ retching/vomiting. As ventilation may be suppressed, noninvasive ventilation is recommended as a precaution.	IV benzodiazepine may cause prolonged apnea & should only be administered in ER or ICU settings.
Clonidine (centrally acting α2-adrenergic agonist) may ↓ sympathetic activity.	May be given via gastrostomy, sublingually, or transdermally
Intranasal dexmedetomidine may be a feasible & safe acute treatment for adrenergic crisis. ⁵	In severe cases IV dexmedetomidine may be used, but only in ICU settings. ⁶
Carbidopa (dopa-decarboxylase inhibitor) given daily may ↓ frequency & severity of hypertensive vomiting attacks. ⁷
Bradyarrhythmia	Pacemaker	For those w/history of syncope &/or cardiac arrest
Orthostatic hypotension	Physical countermaneuvers to ↑ venous return & PT to ↑ muscle strength in legs help prevent orthostatic hypotension. Treatment w/midodrine may be effective for short periods; use as needed prior to physical activity that may cause orthostatic hypotension. Hydration is useful only for short periods due to impaired osmopressor response (most likely due to ↓ function of peripheral osmosensory pathway).	Treatment of orthostatic hypotension w/high doses of fludrocortisone aggravates renal damage.
Hypertension	Attn to factors precipitating hypertension (rather than use of antihypertensive agents) as blood pressure is labile	Sleeping w/20°-40° elevation of head of bed ↓s supine hypertension & nocturnal pressure-diuresis & ↑s intravascular volume in the AM.
Standard treatment of hypertension in persons w/CKD
Kidney	Adequate control of blood pressure Treat renal tubular acidosis w/bicarbonate. Low-potassium diet for hyperkalemia
Ophthal- mologic	Optic neuropathy	Low vision aids	Per low vision clinic
Corneal ulceration	Artificial tear solutions (w/methylcellulose) 3-6x/day, maintenance of normal body hydration, & moisture chamber spectacle attachments	Soft contact lenses can promote healing. Tarsorrhaphy only for corneal injury unresponsive to routine measures Corneal transplantation offers limited success.
Chronic blepharitis	Combined topical antibiotic/corticosteroid ointment
Strabismus	Early surgical correction may help.
Sensory ataxia	OT/PT	Many adults use walkers or wheelchairs when outside the home.
Musculo- skeletal	Foot deformity	PT to preserve flexibility; special shoes w/good ankle support &/or AFOs to correct foot drop & aid walking	Excellent ongoing foot care to avoid development of ulcers at pressure points
Spine deformities	PT to preserve flexibility	Bracing is not effective & may cause pressure ulcers; spinal fusion may be necessary.
Dental	Sialorrhea	Botulinum toxin injections in major salivary glands	Surgical approaches & anticholinergic drugs were used in the past.
Excessive plaque & calculus accumulation	Dental cleaning & preventive care	Biannually by dental hygienist
Periodontal disease, dental trauma, & self- mutilation	Dental eval & care	Assess for occult biting of oral mucosa & establish plan for tooth extraction when needed.
Small jaw	Care by maxillofacial professionals	As needed for dental crowding & moderate/severe malocclusion
Family support & resources	Address caregiver needs (e.g., respite care, home nursing, coordination of multiple subspecialty appointments, equipment, medications, & supplies).

Manifestation/Concern

Treatment

Considerations/Other

Short stature

Growth hormone treatment may be effective & should be considered based on guidelines re height, growth velocity, & bone maturation. ¹

GH stimulation testing may not be reliable.
Monitor spinal curvature, as it tends to worsen during accelerated growth.

Neurogenic dysphagia

Per feeding team; for infants, thickened formula & different-shaped nipples to manage oropharyngeal incoordination

Low threshold for gastrostomy tube & Nissen fundoplication to maintain nutritional status & ↓ risk of aspiration

GERD

Upright positioning w/feeds, prokinetic agents, H₂ antagonists, proton pump inhibitors, & gastrostomy w/or w/o fundoplication are appropriate.

A diagnosis of GERD should be confirmed w/esophageal impedance & manometry.

DD / Educational issues

See Developmental Delay / Intellectual Disability Management Issues.

Psychiatric/behavioral
issues

By mental health professional

Selective serotonin reuptake inhibitors are sometimes effective in treating anxiety; psychotherapy & behavioral techniques may also help.

Blood pressure
instability

Carbidopa is effective in reducing blood pressure variability. ²

Decreased sensitivity
to pain

Close attn to decubitus ulcers, burns, & other minor injuries, joint swelling & bone deformity. Signs of local or systemic infection should be monitored & treated w/antibiotics.

Sleep-disordered
breathing

CPAP or BiPAP

Due to chemoreflex failure, begin noninvasive ventilation even when sleep-disordered breathing is mild to ↓ risk of sudden unexpected death during sleep. ³

Airway
disease

Upper-airway
obstruction

Tonsillectomy & adenoidectomy.

If upper-airway obstruction is not resolved, refer to airway mgmt specialist.

Lower-airway
disease

Treat suppurative lung disease/bronchiectasis w/daily chest physiotherapy.

Cough augmentation is most effective in clearing airway mucus & best achieved by mechanical insufflation/exsufflation methods.
Inhaled hypertonic saline may be beneficial.
Treat acute exacerbation promptly w/antibiotics.

Restrictive
lung disease

Airway mucus clearance w/manually assisted coughing or mechanical insufflation/exsufflation methods

Consider surgical correction of scoliosis on a case-by-case basis. Surgical complications can be severe; data re respiratory function pre- & post-surgery are lacking.

Acute
respiratory
exacerbation

Start antibiotics covering aspiration flora promptly, preferably after obtaining sputum culture.

Oral antibiotics for 14 days
Initiation of IV antibiotics depends on baseline respiratory status; consider when no improvement after oral antibiotics.

Chronic lung
disease

Daily chest physiotherapy (nebulization, bronchodilators, cough augmentation, incentive spirometry, & postural drainage)

Early diagnosis & treatment of pneumonia & infections (secondary to aspiration)
Treatment w/oseltamivir is indicated for influenza virus infections. ⁴

Dysautonomic crises

Instructions to manage crises at home w/fluids & medications via gastrostomy
Guidance re when to visit ER for more extensive eval & treatment

Careful attn to dehydration & electrolyte imbalance; investigate underlying cause when crises are refractory to treatment or other symptoms are present.

Benzodiazepines ↓ retching/vomiting. As ventilation may be suppressed, noninvasive ventilation is recommended as a precaution.

IV benzodiazepine may cause prolonged apnea & should only be administered in ER or ICU settings.

Clonidine (centrally acting α2-adrenergic agonist) may ↓ sympathetic activity.

May be given via gastrostomy, sublingually, or transdermally

Intranasal dexmedetomidine may be a feasible & safe acute treatment for adrenergic crisis. ⁵

In severe cases IV dexmedetomidine may be used, but only in ICU settings. ⁶

Carbidopa (dopa-decarboxylase inhibitor) given daily may ↓ frequency & severity of hypertensive vomiting attacks. ⁷

Bradyarrhythmia

Pacemaker

For those w/history of syncope &/or cardiac arrest

Orthostatic
hypotension

Physical countermaneuvers to ↑ venous return & PT to ↑ muscle strength in legs help prevent orthostatic hypotension.
Treatment w/midodrine may be effective for short periods; use as needed prior to physical activity that may cause orthostatic hypotension.
Hydration is useful only for short periods due to impaired osmopressor response (most likely due to ↓ function of peripheral osmosensory pathway).

Treatment of orthostatic hypotension w/high doses of fludrocortisone aggravates renal damage.

Hypertension

Attn to factors precipitating hypertension (rather than use of antihypertensive agents) as blood pressure is labile

Sleeping w/20°-40° elevation of head of bed ↓s supine hypertension & nocturnal pressure-diuresis & ↑s intravascular volume in the AM.

Standard treatment of hypertension in persons w/CKD

Kidney

Adequate control of blood pressure
Treat renal tubular acidosis w/bicarbonate.
Low-potassium diet for hyperkalemia

Ophthal-
mologic

Optic
neuropathy

Low vision aids

Per low vision clinic

Corneal
ulceration

Artificial tear solutions (w/methylcellulose) 3-6x/day, maintenance of normal body hydration, & moisture chamber spectacle attachments

Soft contact lenses can promote healing.
Tarsorrhaphy only for corneal injury unresponsive to routine measures
Corneal transplantation offers limited success.

Chronic
blepharitis

Combined topical antibiotic/corticosteroid ointment

Strabismus

Early surgical correction may help.

Sensory ataxia

OT/PT

Many adults use walkers or wheelchairs when outside the home.

Musculo-
skeletal

Foot
deformity

PT to preserve flexibility; special shoes w/good ankle support &/or AFOs to correct foot drop & aid walking

Excellent ongoing foot care to avoid development of ulcers at pressure points

Spine
deformities

PT to preserve flexibility

Bracing is not effective & may cause pressure ulcers; spinal fusion may be necessary.

Dental

Sialorrhea

Botulinum toxin injections in major salivary glands

Surgical approaches & anticholinergic drugs were used in the past.

Excessive
plaque &
calculus
accumulation

Dental cleaning & preventive care

Biannually by dental hygienist

Periodontal
disease, dental
trauma, & self-
mutilation

Dental eval & care

Assess for occult biting of oral mucosa & establish plan for tooth extraction when needed.

Small jaw

Care by maxillofacial professionals

As needed for dental crowding & moderate/severe malocclusion

Family support &
resources

Address caregiver needs (e.g., respite care, home nursing, coordination of multiple subspecialty appointments, equipment, medications, & supplies).

From: Familial Dysautonomia

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

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