Manifestations of Intellectual Disability, Dystonia, and Parkinson’s Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)

Table 2

Clinical manifestations of the patient with Partington syndrome.

Neurological symptoms	At the age
Clumsiness of gait	Since childhood
Dysarthria	Since childhood
Mild intellectual disability	Since childhood
Tremor in rest and action, mainly of the left arm and hand	Since childhood
Spasticity in lower limbs	Since childhood
Epileptic seizures	Between ages 14–21
Parkinsonism like resting tremor	Since the age of 27
Rigidity	Since the age of 27
Dystonic symptoms such as head nodding, myokymias of the throat, facial movements provoked by shaving	Since the age of 30
Limb kinetic apraxia. Dystonic beating movements when trying to grab objects	Since the age of 30
Cramps in toes resulting in wounds on soles	Since the age of 35
Psychiatric symptoms
Agitation attacks with collapses and nausea and redness of face	Between ages 27–37
Poor sleep	Between ages 30–35
Eyes
Strabismus	Since childhood
Tonic pupils, wears sunglasses	Since childhood
Skin
Bald	Since the age of 25
Purpura pigmentosa	?
Fibromas near toenails	Since the age of 30
Meibomitis	Since the age of 30
Structural signs
Bilateral clubfoot	Since birth, surgical treatment
Retentive testicles	Since birth, surgical treatment
Joint contractures in ankles	Since childhood
Early phase of cardiomyopathy	Diagnosed at the age of 36