Table 2. [Recommended Evaluations Following Initial Diagnosis in Individuals with Spastic Paraplegia 8]. - GeneReviews®

System/Concern	Evaluation	Comment
Spasticity	Neurologic exam	Assess degree of spasticity & assoc signs.
Musculoskeletal	Orthopedics / physical medicine & rehabilitation / PT eval	To incl assessment of: Muscle tone; joint range of motion; posture; mobility; strength, coordination & endurance; pain; bedsores Need for adaptive devices Footwear needs PT needs
OT	To assess: Fine motor function (e.g., hands, feet, face, fingers, & toes) Activities of daily living
Bladder function	Referral to urologist; consider urodynamic eval.	To address spastic bladder symptoms: urgency, frequency, difficulty voiding
Bowel function	Referral to gastroenterologist	To assess constipation & fecal incontinence ¹
Bulbar muscle weakness	Assessment by speech & language pathologist	Speech disorder (dysarthria) Swallowing disorder (dysphagia)
Mental health	Eval for symptoms of depression
Genetic counseling	By genetics professionals ²	To inform affected individuals & their families re nature, MOI, & implications of SPG8 to facilitate medical & personal decision making
Family support & resources	Assess need for: Use of community or online resources; Social work involvement for caregiver support; Home nursing referral.

System/Concern

Evaluation

Comment

Spasticity

Neurologic exam

Assess degree of spasticity & assoc signs.

Musculoskeletal

Orthopedics / physical medicine & rehabilitation / PT eval

To incl assessment of:

Muscle tone; joint range of motion; posture; mobility; strength, coordination & endurance; pain; bedsores
Need for adaptive devices
Footwear needs
PT needs

To assess:

Fine motor function (e.g., hands, feet, face, fingers, & toes)
Activities of daily living

Bladder function

Referral to urologist; consider urodynamic eval.

To address spastic bladder symptoms: urgency, frequency, difficulty voiding

Bowel function

Referral to gastroenterologist

To assess constipation & fecal incontinence ¹

Bulbar muscle
weakness

Assessment by speech & language pathologist

Speech disorder (dysarthria)
Swallowing disorder (dysphagia)

Mental health

Eval for symptoms of depression

Genetic
counseling

By genetics professionals ²

To inform affected individuals & their families re nature, MOI, & implications of SPG8 to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Use of community or online resources;
Social work involvement for caregiver support;
Home nursing referral.

From: Spastic Paraplegia 8

GeneReviews^® [Internet].

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

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