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X-Linked Neurodegenerative Syndrome Type Hamel

Presentation

Generalized alopecia and microcephaly were also present. [zenodo.org]

Entire Body System

  • Disability

    Mild to severe intellectual disability may also be observed. [zenodo.org]

Skin

  • Hyperkeratosis

    […] feet, an abnormal gait, and palmar and plantar hyperkeratosis. [zenodo.org]

Eyes

  • Visual Impairment

    An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and [zenodo.org]

  • Visual Impairment

    An X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and [zenodo.org]

Neurologic

  • Convulsions

    An X-linked neurodegenerative disorder characterised by intellectual deficit, blindness, convulsions, spasticity, mild hypomyelination and early death. It has been described in about ten male members from two generations of one family. [zenodo.org]

  • Seizure

    A very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures. [zenodo.org]

  • Tremor

    A basal ganglia disorder characterised by Parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. [zenodo.org]

Workup

Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). [zenodo.org]

Treatment

A prompt diagnosis decreases morbidity and mortality through prevention and treatment of complications. [go.gale.com]

Treatment with replacement Ig is effective; hematopoietic stem cell transplantation has also been reported. [zenodo.org]

Prognosis

Prognosis is poor, death occurs at the median age of 39 years with a major cause represented by respiratory failure as a consequence of brain stem atrophy and neurodegeneration. [go.gale.com]

Prognosis is poor, as the clinical course of WS1 is rapidly progressive and leads to a premature death of patients at the mean age of 30 years (25–49 years). The main cause of death is respiratory failure due to brainstem atrophy [5][6]. [encyclopedia.pub]

Etiology

The aim of this narrative review is to focus on etiology, pathogenesis and natural history of WS for an adequate patient management and for the discussion of future therapeutic interventions. [go.gale.com]

Epidemiology

Epidemiology of WS1 WS1 is a very rare neurodegenerative disease. [encyclopedia.pub]

Pathophysiology

An extensive understanding of WS from pathophysiology to therapy is fundamental and more studies are necessary to better manage this devastating disease and guarantee the patients a better quality of life and longer life expectancy. [go.gale.com]

Physiology and Pathophysiology of WS1 Wolframin is in the endoplasmic reticulum (ER) membrane, which plays a key role in the ability of cells to properly fold and post-translate secretory and the ER transmembrane proteins [29][30][31]. [encyclopedia.pub]

Prevention

A prompt diagnosis decreases morbidity and mortality through prevention and treatment of complications. [go.gale.com]

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