DOCUMENT

SUMMER 2023 InTouch | 13 have another normally functioning gene on the other X chromosome. A mother who is a carrier remains unaffected but has a 25% chance in each pregnancy of having an affected male child. Autosomal dominant: In autosomal dominant inheritance, one defective copy is enough for the disease to present. The gene with the defect is found on one of the 22 pairs of chromosomes not involved in sex determination. Men and women are equally likely to be affected. A person with an autosomal dominant condition will be affected by the disease and has a 50% chance in each pregnancy that their child will also be affected. Autosomal recessive: Autosomal recessive HSP requires that two copies of the gene be defective for the disease to develop fully. In this situation, each parent is a carrier of one defective gene but does not have symptoms themselves. Each child in this case has a 25% chance of inheriting the disease. Genetic counseling is available to families who have had a diagnosis of hereditary spastic paraplegia. This service helps families understand inheritance patterns and what it means in their family, which enables people to make more informed family-planning decisions. You can access this via your GP, self-refer, or talk to an MDA support advisor. Diagnosis The diagnosis of HSP is made primarily by neurological examination and observation of a spastic gait as well as taking a family history. Additional testing may be done to rule out other disorders. MRI abnormalities of the brain may be HEREDITARY SPASTIC PARAPLEGIA/FAMILIAL SPASTIC PARAPARESIS seen in some of the complicated forms of HSP and can sometimes aid in diagnosis. Management There are no specific treatments to prevent, slow, or reverse HSP. Management of symptoms is best done through a multidisciplinary approach, with the goal of reducing spasticity, improving function, and enhancing quality of life. A neurologist, physiotherapist, occupational therapist, and swallow and speech therapist may all be involved. Physiotherapy can help Continued over ... Above: Illustrations showing modes of inheritance. X-Linked Recessive Parents Children mutation X X X X X X X X X X X X X X X X X X Y Y Y Y Y Y Father Affected Father Unaffected Mother Unaffected Mother Carrier Son Unaffected Son Affected Son Unaffected Son Unaffected Daughter Carrier Daughter Carrier Daughter Carrier Daughter Unaffected Autosomal recessive Carrier mother Affected Unaffected Carrier father 50% chance carrier 25% chance affected 25% chance unaffected Autosomal dominant Unaffected mother Affected Unaffected Affected father Unaffected child Unaffected child Affected child Affected child