Melanin Children Matter
Building Leadership
At Melanin Children Matter, we're dedicated to servicing children, healing families, and educating society while enhancing awareness surrounding childhood rare diseases and resources for autism.
Last updated 04/30/2025
Clinical
Disease Class
Neurological diseases
Body Systems
Metabolic
Muscular / Skeletal
Nervous / Sensory
Respiratory
Organs
Connective tissue / joints
Lungs
Muscles
Nerves
Spinal cord
Stomach
Trachea, cervical
Known Genetic Link
Yes, there are both genes that cause the condition and genetic factors that contribute
causative_genes
SPTLC2
contributory_genes
C9orf72
FUS
TARDBP
Type of Inheritance
De novo
Not specified / unknown
Newborn Screening
No, but we are in the process of requesting the addition of our gene(s)
Disease Mechanism(s)
Lipid metabolism disorder
Transport defect
Age of Onset
Early childhood (age 1+-5)
Infancy (age 0-1)
Prebirth
Average Age at Diagnosis
Early childhood (age 1+-5)
Infancy (age 0-1)
Pre-Birth
Life Expectancy
Early childhood (age 1+-5)
Middle childhood (6-11)
Affected Sex(es)
Female
Male
National Prevalence
Less than 10
Global Prevalence
11-50
National Incidence
Less than 10
Global Incidence
Less than 10
Populations and/or ancestry with higher prevalence
There is currently no solid evidence to suggest that SPTLC2-related pediatric ALS has a higher prevalence in any particular ethnic, racial, or geographic group. This condition is extremely rare, and due to its genetic nature, SPTLC2 mutations are likely present in all populations but are difficult to diagnose without targeted genetic screening. The incidence of ALS in general is higher in Caucasian populations in North America and Europe, but this does not directly correlate with SPTLC2-related ALS specifically. Ongoing research into ALS and genetic disorders will be important in uncovering any population-specific trends for SPTLC2-related pediatric ALS.
Symptoms / Phenotypes
autonomic nervous system problems
breathing difficulties
fatigue
feeding difficulties
gait abnormalities / gait disturbance
gastrointestinal disorders
hearing loss / hearing impairment
hyporeflexia
infection, unspecified location
movement disorders / ataxia / tremor
muscle atrophy
muscle weakness
neuropathic pain
pain, chronic
penetrating foot ulcers
poor wound healing
sensory processing disorder / sensory hypersensitivity
speech problems / apraxia
Biomarkers
None
Existing Therapies
None
Organizational & Research
Cell Lines
None
Cell Lines, Institution
None
Cell Lines, share
N/A
Disease Model
None
Disease Model, share
N/A
Clinical Trial Role
Data analysis
Meeting with regulators
Other consulting
Recruitment and outreach, patients
Results dissemination, publication
Study protocol design, review
Biobank, Institution
None
Center of Excellence, Institution
None
Registry
No, we do not have a registry, but we plan to create one
Natural History Study
No, we do not have a natural history study, but we plan to create or collaborate on one
FDA Patient Listening Session
Yes
FDA Patient-Focused Drug Development (PFDD) Program
Yes
ICD Codes
No, we do not have any ICD codes
Diagnostic Guidelines
No
Science Advisory Board Policies
Yes, willing to share SAB policies
Research Network Policies
Does not have a CRN
Research Roadmap
We don't have a Research Roadmap
International Chapters
None
International Partners
None