Neurological diseases of genetic origin in childhood
Developmental delay, cognitive impairment, autism and epilepsy are the most frequent manifestations of diseases of genetic origin. The conditions below are those the association works on first.
Rett syndrome
A severe neurodevelopmental disorder seen in girls (incidence about 1 in 10,000-20,000). After normal development in the first 6-12 months of life, skills that had been acquired are lost.
- Loss of purposeful hand use, stereotypic hand movements
- Regression in speech and communication skills
- Epilepsy in 60-80% of patients
Dravet syndrome
A rare and severe epilepsy that begins in the first year of life with prolonged seizures, often triggered by fever; the seizures are usually resistant to medication.
- Prolonged, fever-sensitive seizures
- Developmental and cognitive involvement
- Features of the autism spectrum may accompany it
Angelman syndrome
Caused by loss of function of the maternally inherited UBE3A gene; recognised by marked developmental delay and absent or very limited speech.
- Happy demeanour, frequent laughter
- Disturbance of balance and gait (ataxia)
- Epilepsy frequently accompanies it
Fragile X syndrome
The most common inherited cause of cognitive impairment; it results from an expansion of the CGG repeat in the FMR1 gene. It is more frequent and more severe in boys.
- Cognitive impairment and learning difficulty
- Autism-like features, attention problems
- Physical findings such as a long face and prominent ears
Smith-Lemli-Opitz
An autosomal recessive metabolic syndrome in which cholesterol synthesis is disrupted because of deficiency of the DHCR7 enzyme.
- Developmental delay and microcephaly
- Fusion of the 2nd and 3rd toes (syndactyly)
- Feeding difficulty and behavioural findings
Genetic epilepsies
Genetic predisposition plays a part in about 30-40% of epilepsies; in drug-resistant cases in particular, genetic investigation can guide both diagnosis and treatment.
- Diagnosis through gene panels and exome analysis
- Gene variants that affect the choice of medication
- Gene-targeted treatments are in clinical trials
Spinal muscular atrophy
Progressive muscle weakness due to loss of motor nerve cells; it occurs in about 1 in 10,000 births. The course of the disease has changed substantially since three gene-targeted treatments came into use.
- Hypotonia ('floppy infant') and delay in motor milestones
- Early diagnosis through newborn screening in Türkiye
- Nusinersen, gene therapy and risdiplam as options
Duchenne muscular dystrophy
The most common inherited muscle disease in boys, caused by absence of dystrophin; the earliest clue is usually a very high creatine kinase (CK) level.
- Frequent falls, difficulty on stairs, Gowers' sign
- Marked enlargement of the calves
- Steroids, exon skipping and gene therapy as options
Tuberous sclerosis
Multi-organ involvement due to overactivity of the mTOR pathway; it often presents in infancy with epilepsy (infantile spasms) and has a targeted treatment.
- Milk-white patches on the skin, cardiac rhabdomyoma
- Epilepsy in 80-90% of patients
- Vigabatrin for infantile spasms; everolimus (an mTOR inhibitor)
More than seventy disease guides
Alongside the conditions above, the association publishes guides on the genetic epilepsies (KCNQ2, CDKL5, SCN2A and others), leukodystrophies, neurometabolic conditions, movement disorders and neuromuscular diseases. Each guide has an emergency action plan and a routine follow-up schedule as a PDF. The guides are at present written in Turkish.