CLN5 is a subtype of Batten disease with late infantile onset, which means that the signs and symptoms of CLN5 begin to show during childhood years. Children living with CLN5 will often experience normal development, until they reach the ages between 4 and 7 years old, when the first signs and symptoms of the disease typically appear. After disease onset occurs, the symptoms will continue to progress.

Birth Through Age 7

Children with CLN5 typically experience normal development until they reach the ages between 4-7. Initial common signs and symptoms may include:

  • Cognitive difficulties
  • Initial delays with learning
  • Delays with motor function and movement
  • Loss of motor skills that were previously acquired (developmental regression)
Birth Through Age 7

I didn’t notice any initial signs and symptoms because I was unsure of what I was looking for and he kept getting misdiagnosed.

- Wendy, mother of son living with CLN5

More Patient Stories

Adolescent years

As the disease continues to progress through adolescent years, other symptoms may become apparent:

  • Vision deterioration
  • Progressive dementia
  • Decline in language ability
  • Difficulty eating
  • Loss of motor function

Challenges with cognitive and motor skills may be perceived as behavioral issues such as hyperactivity, anxiety, and obsessive activities. The child’s description of vision loss associated with CLN5 may be interpreted as hallucinations by parents or caregivers.

Adolescent years

Childhood Years

Signs and symptoms start to become most noticeable during this stage. The signs that are most commonly seen during this time may include:

  • Continued learning disabilities, including struggles with concentration and memory issues
  • Vision problems or impairments
  • Recurrent seizures, or epilepsy
  • Uncontrollable muscle jerks (myoclonus)
  • Motor clumsiness
  • Difficulty coordinating movements
Childhood Years

“Austin’s perception would be off. Sometimes he would run into a doorframe, or put his foot down to search before stepping down a stair. When he was on an uneven service, he would have trouble walking. Walking up and down hills, or going from sidewalk to grass, got increasingly difficult for him.”

- Wendy, mother of son living with CLN5

More Patient Stories

Birth Through Age 7

Children with CLN5 typically experience normal development until they reach the ages between 4-7. Initial common signs and symptoms may include:

  • Cognitive difficulties
  • Initial delays with learning
  • Delays with motor function and movement
  • Loss of motor skills that were previously acquired (developmental regression)
Birth Through Age 7

I didn’t notice any initial signs and symptoms because I was unsure of what I was looking for and he kept getting misdiagnosed.

- Wendy, mother of son living with CLN5

More Patient Stories

Childhood Years

Signs and symptoms start to become most noticeable during this stage. The signs that are most commonly seen during this time may include:

  • Continued learning disabilities, including struggles with concentration and memory issues
  • Vision problems or impairments
  • Recurrent seizures, or epilepsy
  • Uncontrollable muscle jerks (myoclonus)
  • Motor clumsiness
  • Difficulty coordinating movements
Childhood Years

“Austin’s perception would be off. Sometimes he would run into a doorframe, or put his foot down to search before stepping down a stair. When he was on an uneven service, he would have trouble walking. Walking up and down hills, or going from sidewalk to grass, got increasingly difficult for him.”

- Wendy, mother of son living with CLN5

More Patient Stories

Adolescent years

As the disease continues to progress through adolescent years, other symptoms may become apparent:

  • Vision deterioration
  • Progressive dementia
  • Decline in language ability
  • Difficulty eating
  • Loss of motor function

Challenges with cognitive and motor skills may be perceived as behavioral issues such as hyperactivity, anxiety, and obsessive activities. The child’s description of vision loss associated with CLN5 may be interpreted as hallucinations by parents or caregivers.

Adolescent years

Signs & Symptoms Reported by Caregivers

While the signs, symptoms, and age of onset of CLN5 may vary and can progress differently in each individual, there are common signs and symptoms that are consistent across people living with CLN5. The examples below come from parents of children with CLN5.

  • Progressive vision loss (reluctance to step off curbs, squinting to look at pictures, reads a book too close to face, sees things that aren’t there, especially at night)
  • Cognitive delay (isn’t meeting milestones, slow to respond verbally)
  • Seizures (appearing to nod off, looks like they are startled awake, twitches and tremors)
  • Clumsiness and issues with gross motor function or coordination of movement (lack of agility, reluctance to run, difficultly hopping on one foot, tripping, and falling)
  • Deterioration of fine motor skills (challenges with scissors, needing a fat crayon instead of a pencil, difficultly picking up small objects)
Batten Disease Glossary of Terms

Sources:

    1. Neuronal ceroid lipofuscinosis 5 (n.d.). Retrieved August 16, 2019, from link.
    2. Batten Disease Fact Sheet. (2019, June 24). Retrieved July 31, 2019, from link.
    3. Batten Disease Support and Research Association CLN5 disease. (n.d.). Retrieved August 16, 2019, from link.
    4. Malhas, A. Study Provides More Insight into Early Signs, Progression of CLN5 Disease. (n.d.). Retrieved August 16, 2019, from link.
    5. CEROID LIPOFUSCINOSIS, NEURONAL, 5; CLN5. (2016, March 15). Retrieved June 20, 2019, from link.
    6. Simonati, A., Williams, R. E., Nardocci, N., Laine, M., Battini, R., Schulz, A., Garavaglia, B., Moro, F., Pezzini, F., & Santorelli, F.M. (2017). Phenotype and natural history of variant late infantile ceroid‐lipofuscinosis 5. Developmental Medicine & Child Neurology, 59(8): 815-821. Retrieved December 17, 2019, from link.