Table 2.

DYNC1H1-Related Disorders: Comparison of Presentations at Initial Evaluation

FeatureDYNC1H1-NMDDYNC1H1-NDD
PNS
Findings
Motor axonal neuropathy++
Reduced lower limb strength+±
Muscular hypotonia / atrophy in lower limbs+±
Lower limb hyporeflexia+±
Upper limb hyporeflexia+±
Reduced upper limb strength+±
Sensory neuropathy+±
Foot deformities+±
Spinal deformities+±
Contractures+±
Congenital hip dislocation/dysplasia+±
Abnormal gait+±
CNS
Findings
Motor developmental delay++
Speech developmental delay±
Intellectual disability±
Behavioral disorder±
Epilepsy±
Abnormal movements±
Malformations of cortical development±
Microcephaly±

+ = present; ± = variably present; − = absent

CNS = central nervous system; DYNC1H1-NDD = DYNC1H1-related neurodevelopmental disorder; DYNC1H1-NMD = DYNC1H1-related neuromuscular disorder; PNS = peripheral nervous system

From: DYNC1H1-Related Disorders

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