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Disease Profile

Spastic paraplegia 51

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

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ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

SPG51; Autosomal recessive spastic paraplegia 51; Spastic paraplegia 51, autosomal recessive;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Intellectual disability, severe
Early and severe mental retardation
Mental retardation, severe
Severe mental retardation

[ more ]

0010864
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference

[ more ]

0000252
Progressive spastic paraplegia
0007020
30%-79% of people have these symptoms
Babinski sign
0003487
Bulbous nose
0000414
Cerebellar atrophy
Degeneration of cerebellum
0001272
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Coarse facial features
Coarse facial appearance
0000280
Difficulty walking
Difficulty in walking
0002355
Drooling
Dribbling
0002307
Dystonia
0001332
Facial hypotonia
Decreased facial muscle tone
Low facial muscle tone
Reduced facial muscle tone

[ more ]

0000297
Global developmental delay
0001263
Hyperreflexia
Increased reflexes
0001347
Poor speech
0002465
Short stature
Decreased body height
Small stature

[ more ]

0004322
Spastic dysarthria
0002464
Waddling gait
'Waddling' gait
Waddling walk

[ more ]

0002515
5%-29% of people have these symptoms
Abnormality of the periventricular white matter
0002518
Everted upper lip vermilion
Outward turned upper lip
0010803
High palate
Elevated palate
Increased palatal height

[ more ]

0000218
Hypoplasia of the corpus callosum
Underdevelopment of part of brain called corpus callosum
0002079
Narrow forehead
Decreased width of the forehead
0000341
Overweight
0025502
Pes planus
Flat feet
Flat foot

[ more ]

0001763
Seizure
0001250
Short philtrum
0000322
Shyness
0100962
Stereotypy
Repetitive movements
Repetitive or self-injurious behavior

[ more ]

0000733
Wide mouth
Broad mouth
Large mouth

[ more ]

0000154
1%-4% of people have these symptoms
Acetabular dysplasia
0008807
Amblyopia
Lazy eye
Wandering eye

[ more ]

0000646
Generalized joint laxity
Hypermobility of all joints
0002761
Genu recurvatum
Back knee
Knee hyperextension

[ more ]

0002816
Strabismus
Cross-eyed
Squint
Squint eyes

[ more ]

0000486
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Congenital onset
Symptoms present at birth
0003577
Decreased muscle mass
0003199
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Flexion contracture
Flexed joint that cannot be straightened
0001371
Long nose
Elongated nose
Increased height of nose
Increased length of nose
Increased nasal height
Increased nasal length
Nasal elongation

[ more ]

0003189
Narrow face
Decreased breadth of face
Decreased width of face

[ more ]

0000275
Neonatal hypotonia
Low muscle tone, in neonatal onset
0001319
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pointed chin
Pointy chin
Small pointed chin
Witch's chin

[ more ]

0000307
Prominent antihelix
0000395
Spastic paraplegia
0001258
Spastic tetraplegia
0002510
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Ventriculomegaly
0002119
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge

[ more ]

0000431

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • Orphanet lists international laboratories offering diagnostic testing for this condition.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Spastic paraplegia 51. Click on the link to view a sample search on this topic.