What does CACH mean in CLINICAL MEDICINE
Childhood ataxia with central nervous system hypomyelination (CACH) is a rare genetic disorder that causes physical and intellectual disability. It is caused by mutations in the X-linked PLP1 gene, which encodes the myelin protein proteolipid 1. CACH affects both boys and girls, although males are more severely affected than girls. Symptoms usually begin as early as 3 months of age and can include motor delays, ataxia, hypotonia, poor vision and hearing loss.
CACH meaning in Clinical Medicine in Medical
CACH mostly used in an acronym Clinical Medicine in Category Medical that means Childhood ataxia with central nervous system hypomyelination
Shorthand: CACH,
Full Form: Childhood ataxia with central nervous system hypomyelination
For more information of "Childhood ataxia with central nervous system hypomyelination", see the section below.
Essential Questions and Answers on Childhood ataxia with central nervous system hypomyelination in "MEDICAL»CLINICAL"
What is Childhood Ataxia with Central Nervous System Hypomyelination?
Childhood Ataxia with Central Nervous System Hypomyelination (CACH) is a rare genetic disorder that causes physical and intellectual disability. It is caused by mutations in the X-linked PLP1 gene, which encodes the myelin protein proteolipid 1.
Who does it affect?
CACH affects both boys and girls, although males are more severely affected than girls.
What are the symptoms?
Symptoms usually begin as early as 3 months of age and can include motor delays, ataxia, hypotonia, poor vision and hearing loss.
How is CACH diagnosed?
CACH is typically diagnosed through genetic testing for mutations in the PLP1 gene. Additional neurological tests may also be performed to assess complications associated with the condition such as seizure activity or other seizure disorders.
What treatments are available for CACH?
Treatment for CACH focuses on managing symptoms to support quality of life. Physical therapy may help to improve strength and coordination while occupational therapies can address fine motor skills or cognitive issues. Medication may be used to manage seizures or any secondary conditions associated with CACH such as cerebral palsy or spasticity.
Final Words:
CACH is a rare but serious disorder that can cause lifelong disabilities if not properly managed or treated. With proper diagnosis and care however, children living with CACH can live healthy lives despite its challenges.