Table 5. [Treatment of Manifestations in Individuals with C9orf72-FTD/ALS]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
UMN & LMN involvement / ADL	Physical medicine & rehab / PT & OT Riluzol Edaravone	Ankle-foot braces, walkers, wheelchairs, hospital beds, toileting equipment, lifts to improve functionality Note: Edaravone is not approved worldwide.
Spasticity	Baclofen, tizanidine, cannabinoids, & muscle stretching
Muscle cramps	Magnesium supplements, quinine sulfate, gabapentin, or carbamazepine
Parkinsonism	PT, levodopa trial	Because of psychiatric levodopa side effects, use only when functional impairment is significant.
Cognitive function	Cognitive rehab
Psychiatric/ behavioral manifestations	Environmental, behavioral, & physical interventions	To minimize occurrence & consequences of undesired behaviors
Counseling	For those w/affective disorders or to support affected person &/or caretakers.
SSRIs	For those w/affective disorders or disinhibition & challenging behaviors, the 1st-line approach is pharmacologic therapy.
Venlafaxine	Used when apathy is prominent
Atypical antipsychotics	For severe manifestations (agitation, aggressiveness, psychosis) refractory to SSRIs Often a temporizing measure until affected person becomes more apathetic Note: Risk of iatrogenic extrapyramidal syndrome
Pseudobulbar affect	Dextromethorphan/quinidine
Dysarthria	Speech/language therapy	Use of augmentative communication devices
Dysphagia	Continuous eval & therapy	Safe swallowing techniques, diet modifications, gastrostomy tube
Sialorrhea	Anticholinergic medications, salivary gland botulinum toxin injections, or radiotherapy	Note: Anticholinergic medication can affect cognition.
Respiratory function	Assisted ventilation	Noninvasive at first, proceeding to tracheostomy if necessary
Bladder dysfunction	Anticholinergics & intravesical botulinum toxin	Note: Anticholinergic medication can affect cognition.
Family/caregiver support & resources	Psychosocial support & education via caregiver & patient support groups	To ↓ stress & burden on caregivers

Manifestation/Concern

Treatment

Considerations/Other

UMN & LMN
involvement /
ADL

Physical medicine & rehab / PT & OT
Riluzol
Edaravone

Ankle-foot braces, walkers, wheelchairs, hospital beds, toileting equipment, lifts to improve functionality
Note: Edaravone is not approved worldwide.

Spasticity

Baclofen, tizanidine, cannabinoids, & muscle stretching

Muscle cramps

Magnesium supplements, quinine sulfate, gabapentin, or carbamazepine

Parkinsonism

PT, levodopa trial

Because of psychiatric levodopa side effects, use only when functional impairment is significant.

Cognitive function

Cognitive rehab

Psychiatric/
behavioral
manifestations

Environmental, behavioral, & physical interventions

To minimize occurrence & consequences of undesired behaviors

Counseling

For those w/affective disorders or to support affected person &/or caretakers.

SSRIs

For those w/affective disorders or disinhibition & challenging behaviors, the 1st-line approach is pharmacologic therapy.

Venlafaxine

Used when apathy is prominent

Atypical antipsychotics

For severe manifestations (agitation, aggressiveness, psychosis) refractory to SSRIs
Often a temporizing measure until affected person becomes more apathetic
Note: Risk of iatrogenic extrapyramidal syndrome

Pseudobulbar affect

Dextromethorphan/quinidine

Dysarthria

Speech/language therapy

Use of augmentative communication devices

Dysphagia

Continuous eval & therapy

Safe swallowing techniques, diet modifications, gastrostomy tube

Sialorrhea

Anticholinergic medications, salivary gland botulinum toxin injections, or radiotherapy

Note: Anticholinergic medication can affect cognition.

Respiratory function

Assisted ventilation

Noninvasive at first, proceeding to tracheostomy if necessary

Bladder dysfunction

Anticholinergics & intravesical botulinum toxin

Note: Anticholinergic medication can affect cognition.

Family/caregiver
support & resources

Psychosocial support & education via caregiver & patient support groups

To ↓ stress & burden on caregivers

From: C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis

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

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