hereditary spastic paraplegia 7

MONDO:0011803Mondo

Findings

No curated finding names hereditary spastic paraplegia 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia.

Definition from the Mondo Disease Ontology (MONDO:0011803), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Adult onset · Juvenile onset · Young adult onset

Features

50 features

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Occasional (5% to 29% of cases)
Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
Impaired executive functioningHPOHP:0033051
- 3 of 3 reported patients
Lower limb hyperreflexiaHPOHP:0002395
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
Lower limb spasticityHPOHP:0002061
- 3 of 3 reported patients

Genes

1 gene

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

SPG7HGNC:11237
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021

Where it sits

A kind of: hereditary ataxia
hereditary spastic paraplegia
mitochondrial oxidative phosphorylation disorder

Other names

5 names

Resolves to: hereditary spastic paraplegia 7

Also called: hereditary spastic paraplegia caused by mutation in SPG7hereditary spastic paraplegia type 7spastic paraplegia type 7SPG7SPG7 hereditary spastic paraplegia

Show the remaining 38

Slurred speechHPOHP:0001350
- 32 of 42 reported patients
Limb ataxiaHPOHP:0002070
- 2 of 3 reported patients
Memory impairmentHPOHP:0002354
- 2 of 3 reported patients
- Very rare (1% to 4% of cases)
Abnormal mitochondrial morphologyHPOHP:0008322
- Frequent (30% to 79% of cases)
Abnormal pyramidal signHPOHP:0007256
- Frequent (30% to 79% of cases)
Abnormality of mental functionHPOHP:0011446
- Frequent (30% to 79% of cases)
Attention deficit hyperactivity disorderHPOHP:0007018
- Frequent (30% to 79% of cases)
Babinski signHPOHP:0003487
- 22 of 42 reported patients
- Frequent (30% to 79% of cases)
Hypernasal speechHPOHP:0001611
- Frequent (30% to 79% of cases)
Impaired vibration sensation in the lower limbsHPOHP:0002166
- 9 of 40 reported patients
- Frequent (30% to 79% of cases)
Lower limb muscle weaknessHPOHP:0007340
- 11 of 45 reported patients
- Frequent (30% to 79% of cases)
NystagmusHPOHP:0000639
- 18 of 45 reported patients
- Frequent (30% to 79% of cases)
Optic atrophyHPOHP:0000648
- Frequent (30% to 79% of cases)
Ragged-red muscle fibersHPOHP:0003200
- Frequent (30% to 79% of cases)
Slowed slurred speechHPOHP:0007164
- Frequent (30% to 79% of cases)
Somatic sensory dysfunctionHPOHP:0003474
- Frequent (30% to 79% of cases)
Urinary urgencyHPOHP:0000012
- Frequent (30% to 79% of cases)
DysdiadochokinesisHPOHP:0002075
- 16 of 35 reported patients
Muscle weaknessHPOHP:0001324
- 19 of 42 reported patients
Abnormal cerebral white matter morphologyHPOHP:0002500
- Occasional (5% to 29% of cases)
Cerebral cortical atrophyHPOHP:0002120
- Occasional (5% to 29% of cases)
Optic disc pallorHPOHP:0000543
- Occasional (5% to 29% of cases)
Pes cavusHPOHP:0001761
- Occasional (5% to 29% of cases)
ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
Upper limb muscle weaknessHPOHP:0003484
- 3 of 39 reported patients
- Occasional (5% to 29% of cases)
DysmetriaHPOHP:0001310
- 13 of 35 reported patients
Urinary incontinenceHPOHP:0000020
- 1 of 3 reported patients
DysphagiaHPOHP:0002015
- Very rare (1% to 4% of cases)
Lower limb painHPOHP:0012514
- Very rare (1% to 4% of cases)
Specific learning disabilityHPOHP:0001328
- Very rare (1% to 4% of cases)
Upper limb hypertoniaHPOHP:0200049
- 5 of 34 reported patients
Waddling gaitHPOHP:0002515
- 4 of 42 reported patients
Hearing impairmentHPOHP:0000365
- 1 of 42 reported patients
Vertical supranuclear gaze palsyHPOHP:0000511
- 1 of 42 reported patients
Abnormality of somatosensory evoked potentialsHPOHP:0007377
- 0 of 3 reported patients
Upper limb hyperreflexiaHPOHP:0007350
- 0 of 3 reported patients
Upper limb spasticityHPOHP:0006986
- 0 of 3 reported patients
HyperreflexiaHPOHP:0001347