Spastic Paraplegia 7, Autosomal Recessive (SPG7)

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Disease Ontology 12 DOID:0110816 OMIM® 57 607259 OMIM Phenotypic Series 57 PS303350 MeSH 44 D015419 ICD10 32 G11.4 ICD10 via Orphanet 33 G11.4

UMLS via Orphanet 72 C1846564 C3711370 Orphanet 58 ORPHA99013 MedGen 41 C1846564 SNOMED-CT via HPO 68 103276001 10601006 111266001 15188001 16046003 165232002 192967009 205091006 229645001 23133003 246586009 246773002 249945007 25136009 258211005 263681008 271706000 278849000 288939007 289190003 289195008 302200001 32566006 343087000 366575004 386807006 394679006 406506008 40739000 420675003 55533009 563001 64217002 713512009 7461003 75088002 76976005 8011004 86854008 9447003 95646004 95828007 more UMLS 71 C0037773 C0751603 C1846564 C3711370 more

MedlinePlus Genetics : ⁴³ Spastic paraplegia type 7 (also called SPG7) is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) in the legs and difficulty walking. Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types generally involve only spasticity of the lower limbs and walking difficulties. The complex types involve more widespread problems with the nervous system; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). In complex forms, there can also be features outside of the nervous system. Spastic paraplegia type 7 can occur in either the pure or complex form.Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and some muscle weakness. People with this form of spastic paraplegia can also have ataxia; a pattern of movement abnormalities known as parkinsonism; exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features usually become noticeable in adulthood.

MalaCards based summary : Spastic Paraplegia 7, Autosomal Recessive, also known as spg7, is related to spastic paraplegia 20, autosomal recessive and optic atrophy 9, and has symptoms including gait ataxia, urgency of micturition and pain in lower limb. An important gene associated with Spastic Paraplegia 7, Autosomal Recessive is SPG7 (SPG7 Matrix AAA Peptidase Subunit, Paraplegin), and among its related pathways/superpathways is Spinocerebellar ataxia. The drugs Acetylcholine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, spinal cord and brain, and related phenotypes are spastic gait and nystagmus

Disease Ontology : ¹² A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has material basis in mutation in the SPG7 gene on chromosome 16q24.

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 99013DefinitionA 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.Visit the Orphanet disease page for more resources.

OMIM® : ⁵⁷ Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007). (607259) (Updated 05-Mar-2021)

UniProtKB/Swiss-Prot : ⁷³ Spastic paraplegia 7, autosomal recessive: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.

GeneReviews: NBK1107

Clinical features from OMIM®:

607259 (Updated 05-Mar-2021)

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