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76 Possible Causes for Childhood-Onset Progressive Spastic Paraplegia

  • Autosomal Recessive Spastic Paraplegia Type 46

    OMIM : 57 Autosomal recessive spastic paraplegia-46 (SPG46) is a neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia and[malacards.org] UniProtKB/Swiss-Prot : 75 Spastic paraplegia 46, autosomal recessive: A neurodegenerative disorder characterized by onset in childhood of slowly progressive spastic paraplegia[malacards.org] Affiliated tissues include brain , and related phenotypes are nystagmus and hyperreflexia Disease Ontology : 12 A hereditary spastic paraplegia that has material basis in[malacards.org]

  • Autosomal Dominant Spastic Paraplegia Type 36

    […] by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with[orpha.net] Homepage Rare diseases Search Search for a rare disease Autosomal dominant spastic paraplegia type 36 Disease definition A complex form of hereditary spastic paraplegia, characterized[orpha.net]

  • Autosomal Dominant Optic Atrophy

    We present a case report of a 23 year-old, caucasian male with a childhood-onset progressive spastic paraplegia with juvenile-onset rapidly progressive severe optic neuropathy[eg.uc.pt]

  • Spastic Paraplegia

    […] by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with[orpha.net] Some pure, autosomal dominant HSP kindreds exhibit an onset of progressive spastic paraplegia in childhood (ie, P 6y) and relatively little progression of symptoms beyond[emedicine.medscape.com] Both families with KIF1A variants presented with a childhood onset, slowly progressive spastic paraplegia ( Table 4 ).[journals.plos.org]

  • Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

    In general, in autosomal recessive hereditary spastic paraplegia (ARHSP) with onset during childhood, the progression is less severe and spasticity predominates over weakness[cmm.ucsd.edu] […] of spasticity and weakness in adulthood, the course is clearly progressive.[cmm.ucsd.edu] […] spasticity ( mutations in the genes encoding spastin and atlastin) have a non-progressive or very slowly progressive course, whereas in the most common presentation of HSP with onset[cmm.ucsd.edu]

  • Infantile-Onset Ascending Hereditary Spastic Paralysis

    In general, in autosomal recessive hereditary spastic paraplegia (ARHSP) with onset during childhood, the progression is less severe and spasticity predominates over weakness[cmm.ucsd.edu] […] of spasticity and weakness in adulthood, the course is clearly progressive.[cmm.ucsd.edu] […] spasticity ( mutations in the genes encoding spastin and atlastin) have a non-progressive or very slowly progressive course, whereas in the most common presentation of HSP with onset[cmm.ucsd.edu]

  • Juvenile Primary Lateral Sclerosis

    In general, in autosomal recessive hereditary spastic paraplegia (ARHSP) with onset during childhood, the progression is less severe and spasticity predominates over weakness[cmm.ucsd.edu] […] of spasticity and weakness in adulthood, the course is clearly progressive.[cmm.ucsd.edu] […] spasticity ( mutations in the genes encoding spastin and atlastin) have a non-progressive or very slowly progressive course, whereas in the most common presentation of HSP with onset[cmm.ucsd.edu]

  • Distal Spinal Muscular Atrophy Type 3

    […] type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 AR 32 47 CHCHD10 Myopathy, isolated mitochondrial,[blueprintgenetics.com] […] progressive myoclonic epilepsy, Farber lipogranulomatosis AR 13 71 ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 XL 113 354 BICD2 Childhood-onset[blueprintgenetics.com] […] proximal spinal muscular atrophy with contractures AD 12 25 BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor,[blueprintgenetics.com]

  • X-linked Distal Spinal Muscular Atrophy Type 3

    […] type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 AR 34 50 CHCHD10 Myopathy, isolated mitochondrial,[blueprintgenetics.com] […] progressive myoclonic epilepsy, Farber lipogranulomatosis AR 16 71 ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 XL 116 354 BICD2 Childhood-onset[blueprintgenetics.com] […] proximal spinal muscular atrophy with contractures AD 12 28 BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor,[blueprintgenetics.com]

  • Distal Hereditary Motor Neuropathy Type 1

    […] type VA, Charcot-Marie-Tooth disease type 2, Silver syndrome, Silver spastic paraplegia syndrome, Spastic paraplegia 17 AR 34 50 CHCHD10 Myopathy, isolated mitochondrial,[blueprintgenetics.com] […] progressive myoclonic epilepsy, Farber lipogranulomatosis AR 16 71 ATP7A Menkes disease, Occipital horn syndrome, Spinal muscular atrophy, distal, X-linked 3 XL 116 354 BICD2 Childhood-onset[blueprintgenetics.com] […] proximal spinal muscular atrophy with contractures AD 12 28 BSCL2 Lipodystrophy, congenital generalized, Encephalopathy, progressive, Neuropathy, distal hereditary motor,[blueprintgenetics.com]

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