Spastic Paraplegia 35, Autosomal Recessive malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Metabolic diseases, Gastrointestinal diseases, Bone diseases, Mental diseases
Aliases & Descriptions for Spastic Paraplegia 35, Autosomal Recessive:
Orphanet epidemiological data:52
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: adolescent,adult
fatty acid hydroxylase-associated neurodegeneration:
Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Gastrointestinal diseases, Bone diseases, Mental diseases
UniProtKB/Swiss-Prot:68 Spastic paraplegia 35, 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. SPG35 is a complicated form characterized by childhood onset of gait difficulties. It has a rapid progression and many patients become wheelchair-bound as young adults. Patients manifest cognitive decline associated with leukodystrophy. Other variable neurologic features, such as dystonia, optic atrophy, and seizures may also occur.
MalaCards based summary: Spastic Paraplegia 35, Autosomal Recessive, also known as fatty acid hydroxylase-associated neurodegeneration, is related to spastic paraplegia 35 and lateral sclerosis, and has symptoms including ataxia, seizures and urinary urgency. An important gene associated with Spastic Paraplegia 35, Autosomal Recessive is FA2H (Fatty Acid 2-Hydroxylase). Affiliated tissues include brain and eye.
Genetics Home Reference:24 Fatty acid hydroxylase-associated neurodegeneration (FAHN) is a progressive disorder of the nervous system (neurodegeneration) characterized by problems with movement and vision that begin during childhood or adolescence.
OMIM:50 Autosomal recessive spastic paraplegia-35 is a complicated form of SPG characterized by childhood onset of gait... (612319) more...
GeneReviews summary for NBK56080
HPO human phenotypes related to Spastic Paraplegia 35, Autosomal Recessive:(show all 24)
UMLS symptoms related to Spastic Paraplegia 35, Autosomal Recessive:ataxia, seizures
MalaCards organs/tissues related to Spastic Paraplegia 35, Autosomal Recessive:34
UniProtKB/Swiss-Prot genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:68
Clinvar genetic disease variations for Spastic Paraplegia 35, Autosomal Recessive:5
Search GEO for disease gene expression data for Spastic Paraplegia 35, Autosomal Recessive.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet