General Information (adopted from Orphanet):

Synonyms, Signs: SPG7
Number of Symptoms 0
OMIM Id: 607259

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Autosomal dominant
Age of onset: Adult onset

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.


identical entry to Orphanet:99013;

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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) ...
Clinical Description OMIM De Michele et al. (1998) reported a large consanguineous family with autosomal recessive spastic paraplegia with age of onset between 25 and 42 years (mean 30 +/- 8 years). Abnormal gait was the presenting symptom in all cases, ...
Molecular genetics OMIM Casari et al. (1998) found that all affected individuals from the SPG7 family reported by De Michele et al. (1998) were homozygous for a 9.5-kb deletion (602783.0003) in the SPG7 gene.

In 1 of 2 brothers ...

Diagnosis GeneReviews The diagnosis of spastic paraplegia 7 (SPG7) is suspected in the presence of the following:...
Clinical Description GeneReviews Spastic paraplegia 7 (SPG7) is characterized by insidiously progressive bilateral lower limb weakness and spasticity. Most affected individuals have proximal or generalized weakness in the legs and impaired vibration sense....
Genotype-Phenotype Correlations GeneReviews No genotype-phenotype correlations can be proposed based on published studies. ...
Differential Diagnosis GeneReviews No significant differences exist between spastic paraplegia 7 (SPG7) and other types of pure autosomal dominant and autosomal recessive spastic paraplegia [Fink 2002, Fink 2003, Salinas et al 2008] (see Hereditary Spastic Paraplegia Overview for a review). However, Brugman et al [2008] reported that SPG7 mutations are a frequent cause of spastic paraplegia in individuals representing simplex cases (i.e., a single occurrence in a family) with adult-onset disease who do not have an identifiable SPG4 mutation. They also noted that SPG7 mutations are less likely to be found in adult-onset cases in which upper motor neuron symptoms (UMN) are present in the arms and in adult-onset cases with UMN symptoms involving the bulbar region....
Management GeneReviews To establish the extent of disease in an individual diagnosed with spastic paraplegia 7 (SPG7), evaluation by a multidisciplinary team that includes a general practitioner, neurologist, medical geneticist, physical therapist, social worker, and psychologist should be considered....
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....