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Autosomal recessive hereditary spastic paraplegia — Clinical Guidelines

Overview

Autosomal recessive hereditary spastic paraplegia (AR-HSP) is a group of genetic disorders characterized by progressive weakness and spasticity of the lower limbs due to dysfunction of the corticospinal tracts. 2 4

Diagnosis

Clinical presentation of progressive lower limb spasticity and hyperreflexia

Genetic testing to identify mutations in specific genes associated with AR-HSP 2 4

Neuroimaging (MRI) to rule out other causes and assess spinal cord involvement 2

Management

No specific cure; management focuses on symptomatic relief and supportive care

Physical therapy to maintain mobility and prevent contractures 2

Orthopedic interventions such as bracing or surgery for severe deformities 2

Medications to manage spasticity (e.g., baclofen, tizanidine) 1

Special Populations

Pediatrics: Early intervention with physical therapy is crucial for motor development 2

Comorbidities: Consider polypharmacy risks and conduct regular medication reviews to identify and reduce medication-related problems 1

Key Recommendations

Implement regular physical therapy to support motor function and prevent complications (Evidence: Moderate 2)

Conduct systematic medication reviews to identify and mitigate medication-related problems, especially in patients with intellectual disabilities or polypharmacy 1 (Evidence: Weak)

Genetic counseling is recommended for families with a history of AR-HSP to assess risk and inform reproductive decisions 2 (Evidence: Expert opinion)

References

1 Nabhanizadeh A, Oppewal A, Boot FH, Maes-Festen D. Effectiveness of medication reviews in identifying and reducing medication-related problems among people with intellectual disabilities: A systematic review. Journal of applied research in intellectual disabilities : JARID 2019. link 2 Yildirim MS, Ogun TC, Kamiş U. Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. Genetic counseling (Geneva, Switzerland) 2006. link 3 Krunic AL, Vesic SA, Goldner B, Novak A, Clark RE. Ectrodactyly, soft-tissue syndactyly, and nodulocystic acne: coincidence or association?. Pediatric dermatology 1997. link 4 Van Den Ende JJ, Van Der Burgt CJ, Jansweijer MC, Hamel BC, Brunner HG. Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new association. Clinical dysmorphology 1996. link 5 Beck RB, Brudno DS, Rosenbaum KN. Bilateral absence of the ulna in twins as a manifestation of the split hand--split foot deformity. American journal of perinatology 1989. link

Autosomal recessive hereditary spastic paraplegia