Management
There is no specific curative treatment available for HERC1 related MDFPMR. Management should be directed to the symptoms of the patient. The following is recommended:
• Intellectual disability with severe speech problems: close developmental surveillance by a pediatrician with appropriate referral for daily intervention and on-going support at and after school.
• Neurological problems: surveillance and management by a neurologist in case of seizures and/or abnormal brain MRI.
• Behavioural problems: intervention by a development pediatrician or child psychiatrist.
• Skeletal problems: management by orthopedician and physiotherapist.
Genetic counseling
Mutations in HERC1 are inherited in an autosomal recessive manner. All affected individuals with MDFPMR related to the HERC1 gene inherited the pathogenic variants from each parent. Thus, the recurrence risk for future pregnancies of the parents is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible. No individual with homozygous and compound heterozygous HERC1 variants has been known to reproduce. This may be related to reduced reproductive fitness secondary to severe intellectual disability or an ascertainment bias as the patients reported till date have been children or young adults. Recurrence risk in offspring of an affected person is likely to be negligible.