Neonatal / early-onset spinal muscular atrophy and pontocerebellar hypoplasia

Synonyms: SMA, PCH
Material
Material:
EDTA blood
(1 ml)
Untersuchungsdauer
TAT:
3-6 weeks
Contact
Methode
Method:
NGS, CNV
Overview

Neonatal/early-onset spinal muscular atrophy (SMA) presents a rare, diverse group of motor neuron disorders that mimic typical 5q-SMA—presenting severe hypotonia, weakness, and respiratory compromise, starting from before birth to early infancy. When accompanied by pontocerebellar involvement (such as pontocerebellar hypoplasia, or PCH), it represents a severe, genetically distinct “SMA plus” neurodegenerative syndrome merging spinal motor neuron loss with brainstem and cerebellar hypoplasia.

For more information see .

Neonatal / early-onset spinal muscular atrophy and pontocerebellar hypoplasia
9 Gene(s)*
ASAH1
ATP7A
EXOSC3
EXOSC8
IGHMBP2
PLEKHG5
TRPV4
UBA1
VRK1


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