Genetic causes of dysarthria

1. GENETIC CAUSES
OF DYSARTHRIA

2. Fragile x syndrome
Prevalance 1:4000
Fragile x syndrome is a genetic condition that causes a range of developemental problems
including learning disabilities and cognitive impairement
Usually males are more severely affected than females
Affected individuals have delayed speech and language developement by age 2
Cause – mutation of FMR1 Gene on the x chromosome ;By expansion or lengthening of FMR1
gene on the X chromosome.
Speech is characterised by dysarthria , dyspraxia and articulatory errors

3. Prader-willi syndrome
◦ Prevalence – 1:12000 to 15000
◦ It is a complex genetic disorder affecting appetite ,growth,metabolism,cognitive function nd
behaviour.
◦ It is characterized by low muscle tone,short stature,incomplete sexual devp,cognitive
disabilities,behav problems,etc.
◦ Cause – deletion on chromosome 15 q11, long arm of the paternally derived chromosome .
◦ Delayed motor development secondary to hypotonia
◦ Flaccid dysarthria
◦ Speech is characterised by hyper nasality , articulation error and dysarthria

4. Spina bifida with hydrocephalus (SBH)
◦ Spina bifida – incomplete fusion of vertebral column
◦ Hydrocephalus – excess of CSF in brain
◦ SBH – malformation of the cerebellum
◦ Ataxic dysarthria
◦ speech characteristics – articulatory inaccuracy , prosodic excess , phonatory prosodic
insufficiency

5. Downs syndrome
◦ Prevalence – 1:1000
◦ Cause – 3rd 21st chromosome
◦ Primary feature :
◦ Hypotonia –dysarthria
◦ Speech is characterised by
◦ Low pitch
◦ Hyper nasality
◦ Breathiness
◦ Increased rate
◦ Articulatory distortion

6. Guillainn barre syndrome
◦ Prevalance 1-2 :100000
◦ Acute frequently polyradiculo neuropathy that is auto immune in nature
◦ Cause : result of cell mediated immune attack on peripheral nerve myelin protein
◦ Flaccid dysarthria is a main characteristic caused due to demyelination of cranial nerves related
to speech

7. Huntington's Disease
◦ It is a hereditary and progressive brain disorder , that kills nerve cells in the brain over 10 to 20
years.
◦ Symptoms include:
◦ Weight loss
◦ Slight changes in coordination affecting balance
◦ Depression or irritability
◦ Fidgety movements that cant be controlled .

8. Thank you
Group 6
Rasha
Prasila
Soorya
Ranna