READ MORE Orchard’s fourth Rare Pediatric Disease Designation for autologous ex vivo g... READ MORE Washington, D.C., April 11, 2018 – The National Organization for Rare Disorde... [myelin.org]

Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish) తెలుగు (Telugu) ภาษาไทย (Thai) Tiếng Việt (Vietnamese [synonyms.com]

Deutsch (German) العربية (Arabic) Français (French) Русский (Russian) ಕನ್ನಡ (Kannada) 한국어 (Korean) עברית (Hebrew) Український (Ukrainian) اردو (Urdu) Magyar (Hungarian) मानक हिन्दी (Hindi) Indonesia (Indonesian) Italiano (Italian) தமிழ் (Tamil) Türkçe (Turkish [synonyms.com]

Other brainstem or cerebellar deficits include vertigo, paralysis of eye movements, nystagmus, facial palsy, dysarthria or dysphagia. Peripheral cranial nerve abnormalities may occur, including optic neuritis and optic atrophy. [patient.info]

Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms. [icd9data.com]

Mild cutaneous hyperpigmentation was notice in a maternal uncle. [scielo.mec.pt]

These neuroimaging features mimic closely with that of glial neoplasm or even a chronic abscess. This misdiagnosis can lead to inadvertent surgery or radiotherapy. [jmgims.co.in]

retardation, involuntary movements, ataxia, and death in the second decade of life. [icd9data.com]

Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function. [medical-dictionary.thefreedictionary.com]

[…] develops, such as spina bifida Degenerative diseases, where nerve cells are damaged or die, such as Parkinson's disease and Alzheimer's disease Diseases of the blood vessels that supply the brain, such as stroke Injuries to the spinal cord and brain Seizure [icdlist.com]

Diagnosis Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment [wikidoc.org]

Additional recommended knowledge Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting [bionity.com]

Variable neurological abnormalities progressively develop and include personality changes, poor attention, dementia, aphasia, headache, vomiting, tremor, seizures, balance instability, incontinence, muscle weakness. [orpha.net]

( Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS, PMA, PBP, PP, PLS ) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic [wikidoc.org]

( Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome - MND ( Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy [bionity.com]

Clinical findings Onset at age 5 and 10 with reversal of neurologic milestones, seizures, ataxia, Addison's disease, degeneration of visual and auditory function. [medical-dictionary.thefreedictionary.com]

The early symptoms include rotary movements of the head and eyes, which may vanish later in life, usually followed by spasticity of the legs and arms, cerebellar ataxia, dementia, and parkinsonian tremor. [icd9data.com]

Symptoms may include progressive stiffness, weakness or paralysis of the lower limbs, and ataxia. Although adult-onset ALD progresses more slowly than the classic childhood form, it can also result in deterioration of brain function. [ninds.nih.gov]

The disease often occurs shortly after an infectious illness and may manifest with headache, malaise and fever. [orpha.net]

Schilder’s disease often occurs shortly after an infectious illness and may begin with headache, a general feeling of discomfort or illness, and fever. [nationalmssociety.org]

Diagnosis Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment [wikidoc.org]

Additional recommended knowledge Symptoms Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting [bionity.com]

paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman - Kugelberg-Welander - Fazio Londe - MND ( ALS, PMA, PBP, PP, PLS ) Extrapyramidal and movement disorders Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate [wikidoc.org]

paraplegia ) Spinal muscular atrophy : Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome - MND ( Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS ) Extrapyramidal [bionity.com]

Late-onset krabbe disease (lokd) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. [icd9data.com]

paraplegia spastic paraplegia, lower limb Ontology Lookup Service Spinal Muscular Atrophy spinal muscular atrophy Ontology Lookup Service Spinocerebellar ataxia type 3 azorean disease of the nervous system, machado disease, machado-joseph disease, mjd [hpscreg.eu]

James Garbern, Chapter 17 X-Linked Spastic Paraplegia, Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias, 10.1016/S1877-184X(09)70091-7, (344-366), (2007). [doi.org]

DISCUSSION X-ALD is a frequent cause of Addison’s disease in boys and adult males. 8 Adrenocortical insufficiency can be its presenting symptom and occur years before the onset of neurological manifestations. 8 The only symptom related to the adrenocortical [scielo.mec.pt]

Phenotypes include the rapidly progressive childhood, adolescent, and adult cerebral forms; adrenomyeloneuropathy, which presents as slowly progressive paraparesis in adults; and Addison disease without neurologic manifestations. [doi.org]

Although the variation in clinical phenotypes is great, neurologic manifestations are present in nearly all males by adulthood. Nomenclature Siemerling-Creuzfeldt disease is the eponym for X-ALD. [ncbi.nlm.nih.gov]