الصفحة 349 - RM (1993): Linkage analysis of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: no evidence for an epilepsy locus in the HLA region. [books.google.com]

0/315 1/191 [0.5%] Stewart et al.36 5 Idiopathic general epilepsies (IGE) 12/1234 [1%] 6/3022 [0.2%] De Kovel et al.29 6 Childhood absence epilepsy (CAE) 3/198 [1.5%] 0/400 Jiang et al.37 7 Amyotrophic lateral sclerosis 15/4434[0.34%] 15/14618[0.1%] [omicsonline.org]

For example, a person with pure HSP may have peripheral neuropathy caused by diabetes, or he or she may have unrelated epilepsy. Additional symptoms The classic symptom of HSP is progressive difficulty in walking, but the severity varies. [emedicine.medscape.com]

juvenile myoclonic, susceptibility to, 8} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, juvenile absence, susceptibility to, 2} 607628 600570 Autosomal dominant CLCN2 3q27.1 {Epilepsy, idiopathic generalized, susceptibility to, 11} 607628 [mnglabs.com]

Epilepsy, ataxia, optic neuropathy, retinopathy, dementia, ichthyosis, mental retardation, deafness, and problems with speech, swallowing. Physical Signs Upper extremity muscle tone and strength are normal. 35. [slideshare.net]

Nutrition in CKD : 5th edition [PDF] Malnutrition in chronic kidney disease (CKD) is common but is often undiagnosed. This evidence-based clinical practice guideline summarises the main interventions that may be recommended in the... [evidence.nhs.uk]

615048 615903 Autosomal dominant CHD2 15q26.1 Epileptic encephalopathy, childhood-onset 615369 602119 Autosomal dominant CHD4 12p13.31 Sifrim-Hitz-Weiss syndrome 617159 603277 Autosomal dominant CHD7 8q12.2 Hypogonadotropic hypogonadism 5 with or without anosmia [mnglabs.com]

The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

CTにて，脳溝，くも膜下腔がよく見えない時に考慮すべぎ疾患 425 5 特発性頭蓋内圧亢進症（idiopathic intracranial hypertension） 429 6 特発性正常圧水頭症（idiopathic normal pressure hydrocephalus：iNPH） 431 第11章 発作性疾患 1 痙攣後脳症（postictal encephalopathy） 434 2 熱中症（heat stroke） 437 第12章 末梢神経障害 1 外眼筋麻痺 440 1 Tolosa-Hunt [rnavi.ndl.go.jp]

Sleep apnea Obstructive Congenital central hypoventilation syndrome Narcolepsy Cataplexy Kleine–Levin Circadian rhythm sleep disorder Advanced sleep phase disorder Delayed sleep phase disorder Non-24-hour sleep–wake disorder Jet lag CSF Intracranial hypertension [maria-online.com]

[…] spas·tic par·a·ple·gi·a paresis of the lower extremities with increased muscle tone and spasmodic contraction of the muscles. spastic paraplegia Etymology: Gk, spasmos, spasm, para plege, stroke a form of partial paralysis mainly affecting older people [medical-dictionary.thefreedictionary.com]

spasticity Drugs & Therapeutics for Spastic Paraplegia 24, Autosomal Recessive Genetic Tests for Spastic Paraplegia 24, Autosomal Recessive Anatomical Context for Spastic Paraplegia 24, Autosomal Recessive MalaCards organs/tissues related to Spastic [malacards.org]

Many symptoms that are common in people with HSP are not directly caused by HSP but are instead caused indirectly by muscle spasticity, weakness, or hyperactive reflexes. Spasticity Spasticity is an increase in muscle tone with resulting stiffness. [emedicine.medscape.com]

Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

The sum of the point values for spasticity of hip adductor muscles, spasticity of knee flexion, weakness of hip abduction, and weakness of foot dorsiflexion were designated as “spastic subscore”. [ojrd.biomedcentral.com]

MalaCards based summary : Spastic Paraplegia 38, Autosomal Dominant, also known as spg38, is related to spastic paraplegia 10. [malacards.org]

Genes and mapped phenotypes Gene ID: 100049707, updated on 8-Apr-2017 Summary Official Symbol SPG38 provided by HGNC Official Full Name spastic paraplegia 38 (autosomal dominant, Silver syndrome) provided by HGNC Primary source HGNC:HGNC:33485 See related [ncbi.nlm.nih.gov]

Six new chapters cover congenital myasthenic syndromes, hereditary spastic paraplegia, ion channel disorders, the phakomatoses, beta-galactosidase deficiency, and prion diseases. [books.google.com]

spastic paraplegia Pure or complex autosomal recessive spastic paraplegia Pure or complex hereditary spastic paraplegia Spastic paraplegia type 2 Spastic paraplegia type 7 X-linked complex spastic paraplegia X-linked pure spastic paraplegia X-linked spastic [se-atlas.de]

Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and cognitive impairment [malacards.org]

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. [ncbi.nlm.nih.gov]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

Affiliated tissues include spinal cord, and related phenotypes are hyperreflexia and cognitive impairment [malacards.org]

Hereditary spastic paraplegias (HSP) comprise a genetically and clinically heterogeneous group of neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the lower limbs. [ncbi.nlm.nih.gov]

Examination at the age of 22 years after a traffic accident revealed failure of abduction of the left eye, hyperreflexia in all four extremities and Babinski sign. [journals.plos.org]

脳画像の注意すべき読影部位とピットフォール 38 1 見落としやすい部位 38 2 頭部画像：エキスパートの読影法 39 第2章 神経変性疾患 1 脊髄小脳変性症（spinocerebellar degeneration： SCD） 42 1 非遺伝性脊髄小脳変性症 42 2 常染色体優性遺伝性小脳失調症（autosomal dominant cerebellar ataxia: ADCA） 51 3 常染色体劣性遺伝性脊髄小脳変性症 66 4 ミトコンドリア脳症（mitochondrial encephalopathy [rnavi.ndl.go.jp]

[…] hereditary motor neuropathy type 5 - DHMN Dysautonomia familial - Riley Day syndrome Dystonia 1 torsion - DYT1 Dystonia 11 myoclonic - DYT11 Dystonia 6 torsion - DYT6 Dystonia-parkinsonism, rapid-onset - DYT12 Dystonia-Parkinsonism, X-linked - DYT3 Epileptic encephalopathy [agdx.portal.cartagenia.com]

3A AD 37 ATP2B4 108732 0 BICD2 609797 autosomal dominant lower extremity-predominant spinal muscular atrophy type 2 AD 13 BSCL2 606158 Lipodystrophy, congenital generalized, type 2; spastic paraplegia 17; Neuropathy, distal hereditary motor, type V; Encephalopathy [centogene.com]

Toxic encephalopathy Hashimoto's encephalopathy Spinal cord / myelopathy Syringomyelia Syringobulbia Morvan's syndrome Vascular myelopathy Foix–Alajouanine syndrome Spinal cord compression Both/either Degenerative SA Friedreich's ataxia Ataxia-telangiectasia [maria-online.com]

Roughly 50 HSP genes, denoted spastic gait genes (SPG), have been localized (mapping of the locus), and about 20 of them have been identified explaining approximately 40-60% of autosomal forms. [telethon.it]

Diagnosis of SPG is established by the following clinical features 1, 2 : Typical clinical symptoms of spastic gait impairment and neurologic findings of spastic weakness, hyperreflexia, typically associated with bilateral extensor plantar responses A [centogene.com]

If symptoms begin during the teenage years or later, then spastic gait disturbance usually progresses over many years. [en.wikipedia.org]

Keywords Hereditary Spastic Paraplegia Spastic Paraparesis Primary Lateral Sclerosis Spastic Gait Hereditary Spastic Paraparesis These keywords were added by machine and not by the authors. [link.springer.com]