Table 4. [Recommended Evaluations Following Initial Diagnosis in Individuals with a PNPLA6 Disorder]. - GeneReviews®

System/Concern	Evaluation	Comment
Neurologic	Ataxia	By neurologist for cerebellar motor dysfunction: gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades & smooth pursuit	Use standardized scale to establish baseline for ataxia (SARA). ¹
LMN involvement (motor & sensory neuropathy)	Weakness, amyotrophy, fasciculations, sensory involvement	Nerve conduction studies & EMG to determine presence & extent of peripheral neuropathy
UMN involvement (spasticity)	Spasticity, Babinski signs, hyperreflexia	Use standardized scale to establish baseline for spasticity (SPRS). ²
Neuro- imaging	MRI of the cerebrum (incl pituitary), cerebellum, spinal cord (incl thoracic cord)	To establish extent of atrophy in the different brain regions & exclude secondary causes of clinical features
Musculoskeletal/ADL	OT/PT/rehab specialist	To assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, ongoing need for PT & OT
Feeding	If frequent choking or severe dysphagia, assessment of: Nutritional status Aspiration risk	Consider involving gastroenterology/nutrition/feeding team, incl formal swallowing eval
Speech	For those w/dysarthria: speech-language eval	Consider referral to speech & language pathologist.
Bladder dysfunction	Hx of spastic bladder symptoms: urgency, frequency, difficulty voiding	Referral to urologist; consider urodynamic eval.
Cognitive dysfunction	Neuropsychological investigation	Incl assessment of IQ, attention span, visuospatial abilities, recall
Chorioretinal dystrophy	By ophthalmologist	Best corrected visual acuity, visual field testing, fundoscopy, retinal imaging, OCT
Anterior pituitary deficiency	Hypogonado- tropic hypo- gonadism	Males: for cryptorchidism, micropenis, delayed puberty Females: for hx of primary amenorrhea	Refer to endocrinologist for complete workup.
Hypo- thyroidism	For hx of congenital hypothyroidism or delayed growth
Growth hormone deficiency	For hx of delayed growth
Genetic counseling	By genetics professionals ³	To inform affected persons & their families re nature, MOI, & implications of a PNPLA6 disorder to facilitate medical & personal decision making
Family support & resources	Assess need for: Community or online resources such as Parent to Parent; Social work involvement for parental support; Home nursing referral.	See Resources.

System/Concern

Evaluation

Comment

Neurologic

Ataxia

By neurologist for cerebellar motor dysfunction: gait & postural ataxia, dysmetria, dysdiadochokinesis, tremor, dysarthria, nystagmus, saccades & smooth pursuit

Use standardized scale to establish baseline for ataxia (SARA). ¹

LMN
involvement
(motor &
sensory
neuropathy)

Weakness, amyotrophy, fasciculations, sensory involvement

Nerve conduction studies & EMG to determine presence & extent of peripheral neuropathy

UMN
involvement
(spasticity)

Spasticity, Babinski signs, hyperreflexia

Use standardized scale to establish baseline for spasticity (SPRS). ²

Neuro-
imaging

MRI of the cerebrum (incl pituitary), cerebellum, spinal cord (incl thoracic cord)

To establish extent of atrophy in the different brain regions & exclude secondary causes of clinical features

Musculoskeletal/ADL

OT/PT/rehab specialist

To assess gross motor & fine motor skills, gait, ambulation, need for adaptive devices, ongoing need for PT & OT

Feeding

If frequent choking or severe dysphagia, assessment of:

Nutritional status
Aspiration risk

Consider involving gastroenterology/nutrition/feeding team, incl formal swallowing eval

Speech

For those w/dysarthria: speech-language eval

Consider referral to speech & language pathologist.

Bladder dysfunction

Hx of spastic bladder symptoms: urgency, frequency, difficulty voiding

Referral to urologist; consider urodynamic eval.

Cognitive dysfunction

Neuropsychological investigation

Incl assessment of IQ, attention span, visuospatial abilities, recall

Chorioretinal dystrophy

By ophthalmologist

Best corrected visual acuity, visual field testing, fundoscopy, retinal imaging, OCT

Anterior pituitary deficiency

Hypogonado-
tropic hypo-
gonadism

Males: for cryptorchidism, micropenis, delayed puberty
Females: for hx of primary amenorrhea

Refer to endocrinologist for complete workup.

Hypo-
thyroidism

For hx of congenital hypothyroidism or delayed growth

Growth
hormone
deficiency

For hx of delayed growth

Genetic counseling

By genetics professionals ³

To inform affected persons & their families re nature, MOI, & implications of a PNPLA6 disorder to facilitate medical & personal decision making

Family support
& resources

Assess need for:

Community or online resources such as Parent to Parent;
Social work involvement for parental support;
Home nursing referral.

See Resources.

From: PNPLA6 Disorders

GeneReviews^® [Internet].

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

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