Details of Disease

General Information of Disease (ID: DISABM1Q)

• Disease Name: Hereditary spastic paraplegia 28
• Synonyms: spastic paraplegia 28, autosomal recessive; SPG28; autosomal recessive pure spastic paraplegia caused by mutation in DDHD1; autosomal recessive spastic paraplegia 28; hereditary spastic paraplegia type 28; DDHD1 autosomal recessive pure spastic paraplegia; hereditary spastic paraplegia 28; autosomal recessive spastic paraplegia type 28
• Definition: Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs.
• Disease Hierarchy:
  DIS8X71E: Pure hereditary spastic paraplegia
  DISABM1Q: Hereditary spastic paraplegia 28
• Disease Identifiers:
  MONDO ID: MONDO_0012256
  MESH ID: C563732
  UMLS CUI: C1836295
  OMIM ID: 609340
  MedGen ID: 332174
  Orphanet ID: 101008
  SNOMED CT ID: 763376002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DDHD1	OTWTHOWK	Strong	Autosomal recessive	[1]

References

• [1] Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. doi: 10.1016/j.ajhg.2012.11.001. Epub 2012 Nov 21.