Table 4. [Treatment of Manifestations in Individuals with ALS2-related Disorder]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
UMN involvement (spasticity) / LMN involvement (weakness)	Orthopedics / physical medicine & rehab / PT/OT	Stretching to help avoid contractures & fractures Consider need for orthotics, positioning & mobility devices (e.g., motorized chairs), & disability parking placard.
Developmental/ educational issues	See Developmental/Educational Management Issues.
Scoliosis/hip dislocation	Per treating orthopedist
Musculoskeletal/ADL	PT & OT to promote mobility & independence
Dysarthria	Speech & language therapy	Use of computer technologies & devices adapted to facilitate writing & voice communication
Dysphagia	Gastrostomy tube placement may be required for persistent feeding issues.	Dietary supplements as needed to maintain weight
Bladder dysfunction	Antispasticity medications, catheter	Per routine management of spastic bladder
Bowel dysfunction	Monitor for constipation.	Stool softeners, prokinetics, osmotic agents, or laxatives as needed
Family support/ resources	Ensure appropriate social work involvement to connect families with local resources, respite, & support. Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

Manifestation/Concern

Treatment

Considerations/Other

UMN involvement
(spasticity) /
LMN involvement
(weakness)

Orthopedics / physical medicine & rehab / PT/OT

Stretching to help avoid contractures & fractures
Consider need for orthotics, positioning & mobility devices (e.g., motorized chairs), & disability parking placard.

Developmental/
educational issues

See Developmental/Educational Management Issues.

Scoliosis/hip dislocation

Per treating orthopedist

Musculoskeletal/ADL

PT & OT to promote mobility & independence

Dysarthria

Speech & language therapy

Use of computer technologies & devices adapted to facilitate writing & voice communication

Dysphagia

Gastrostomy tube placement may be required for persistent feeding issues.

Dietary supplements as needed to maintain weight

Bladder dysfunction

Antispasticity medications, catheter

Per routine management of spastic bladder

Bowel dysfunction

Monitor for constipation.

Stool softeners, prokinetics, osmotic agents, or laxatives as needed

Family support/
resources

Ensure appropriate social work involvement to connect families with local resources, respite, & support.
Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.

From: ALS2-Related Disorder

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

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