NFASC

Clinical Characteristics for Families

Other features of the condition include recurrent seizures that involve uncontrollable spasms (epilepsy), difficulty coordinating movements (ataxia), speech problems, and a decline in intellectual function.

Additional features include:

Central Nervous System
•    Global developmental delay
•    Impaired intellectual development
•    Delayed walking
•    Ataxia
•    Lack of motor development
•    No purposeful movements
•    Cerebellar ataxia
•    Dysarthria
•    Dysmetria
•    Dysdiadochokinesis
•    Intention tremor
•    Hyperreflexia
•    Myoclonic jerks
•    Seizures (1 patient)
•    Extensor plantar responses
•    Cerebellar atrophy (in some patients)
•    Impaired myelination

Peripheral Nervous System
•    Demyelinating sensorimotor polyneuropathy (in some patients)
•    Decreased nerve conduction velocities
•    Hyporeflexia

Behavioral Psychiatric Manifestations
•    Aggression
•    Anxiety