Table 3b.

Recommended Evaluations Following Initial Diagnosis of an ASAH1-Related Disorder: Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME)

System/ConcernEvaluationComment
Constitutional Assessment for evidence of poor growth
ENT Audiology evalAssess for sensorineural hearing loss.
Respiratory Assessment for pulmonary disease secondary to recurrent aspiration
Gastrointestinal Assessment of feeding & nutritional status, esp in later stages of disease
Musculoskeletal Referral to rehab specialistEvaluate for functional disability in mobility & ADL.
Assessment for scoliosis
Neurologic Referral to neurologistTo document extent of any weakness or other neurologic manifestations of SMA-PME & to evaluate for evidence of seizures
Miscellaneous/
Other 		Consultation w/clinical geneticist or genetic counselor
Referral to palliative care specialistWhen deemed appropriate by family & care providers

ADL = activities of daily living

From: ASAH1-Related Disorders

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