Cape Verde : Boa Vista Cape Verde, Sal, etc. Caribbean Netherlands :, etc. Cayman Islands : George Town, Grand Cayman, West Bay, etc. Central African Republic : Bangui, etc. Chad : N'Djamena, etc. [maria-online.com]

This process is due to mutations in the gene NIPA1, located on the long arm of chromosome 15 (15q11.2). This gene encodes a transporter magnesium is associated with endosomes and the cell surface in a variety of neuronal and epithelial cells. [ivami.com]

The deletion of the proximal long arm of chromosome 15 embracing TUBGC5, NIPA1, NIPA2 and CYFIP1 is well recognised in Prader-Willi syndrome, a complex multisystem disorder that is characterised by neonatal hypotonia, hyperphagia, short stature, obesity [omicsonline.org]

ORPHA:100988 Synonym(s): SPG6 Prevalence: Inheritance: Autosomal dominant Age of onset: Childhood, Adolescent, Adult ICD-10: G11.4 OMIM: 600363 UMLS: C1838192 MeSH: C536866 GARD: 4928 MedDRA: - The documents contained in this web site are presented for [orpha.net]

Search Search for a rare disease Autosomal dominant spastic paraplegia type 6 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia [orpha.net]

Orpha Number: 100988 Disease definition A rare form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well [rarediseases.info.nih.gov]

gait Spastic walk 0002064 Urinary bladder sphincter dysfunction 0002839 Urinary urgency Overactive bladder 0000012 Variable expressivity 0003828 Showing of 26 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging [rarediseases.info.nih.gov]

Related phenotypes are babinski sign and talipes equinovarus Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in mutation in the ZFYVE27 gene on chromosome 10q24. [malacards.org]

Showing of 26 80%-99% of people have these symptoms Babinski sign 0003487 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Impaired vibratory sensation Decreased vibration sense Decreased vibratory sense Diminished vibratory [rarediseases.info.nih.gov]

Genetic counseling Hereditary Spastic Paraplegia (HSP) is a group of clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness. [asperbio.com]

Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. [ebi.ac.uk]

Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal [genecards.org]

extremity spasticity and weakness. [flybase.org]

Clinical Features  Symptoms depend on the type of HSP inherited  Main feature progressive spasticity in the lower limbs, due to pyramidal tract dysfunction  In the lower extremities, spasticity is increased at the hamstrings, quadriceps and ankles [slideshare.net]

limb vibratory sense Decreased vibratory sense in lower limbs Decreased vibratory sense in the lower extremities Decreased vibratory sense in the lower limbs Diminished vibratory sensation in the legs [ more ] 0002166 Insidious onset Gradual onset 0003587 [rarediseases.info.nih.gov]