Wells-Jankovic syndrome

Wells-Jankovic syndrome
Synonyms	Lesch-Nyhan syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Self-mutilation, Dystonia, Chorea, Cognitive impairment
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the HPRT1 gene
Risks	Male gender (X-linked recessive)
Diagnosis	Genetic testing, Clinical evaluation
Differential diagnosis	Cerebral palsy, Tourette syndrome, Rett syndrome
Prevention	N/A
Treatment	Supportive care, Behavioral therapy, Medications for symptom management
Medication	N/A
Prognosis	Variable, often severe
Frequency	Rare
Deaths	N/A

Definition

It is a rare neurologic disease characterized by spastic paraparesis presenting in late childhood with hearing loss.

Prevalence

In the United States, the disease is estimated to affect about 1 in 300 people.

Clinical features

• Spastic paraparesis presenting in late childhood with hearing loss.
• Other features may include retinal anomalies, lenticular opacities, short stature, hypogonadism, sensory deficits, tremor and dysdiochokinesia

Symptoms and signs

The patients affected with this syndrome may present with:

• Abnormality of movement¬†
• Ataxia
• Cataract
• Gait disturbance
• Hemiplegia/hemiparesis
• Hyperreflexia
• Hypogonadism
• Impaired pain sensation
• Nystagmus
• Sensorineural hearing impairment
• Short stature
• Spastic paraparesis
• Visual impairment

Diagnosis

Diagnosis is through a series of tests including:

• Medical History and Physical Exam
• Clinical Procedures
• Laboratory Tests
• Imaging Studies

Laboratory findings

• Elevated cerebrospinal fluid protein, and absent or prolonged somatosensory evoked potentials.
• Plasma and fibroblast levels of saturated very long-chain fatty acids are normal.

Management

Management is supportive care and symptom management.

NIH genetic and rare disease info

• NIH info on Wells-Jankovic syndrome

Wells-Jankovic syndrome is a rare disease.

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