Skip navigation

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Results 1 - 10 of 79 for Abnormal central motor function
  1. Sjögren-Larsson syndrome 
    ... Citation on PubMed or Free article on PubMed Central Rizzo WB, S'Aulis D, Jennings MA, Crumrine DA, Williams ML, Elias PM. Ichthyosis in Sjogren-Larsson syndrome reflects defective barrier function due to abnormal lamellar body structure and secretion. Arch Dermatol Res. ...
    https://medlineplus.gov/genetics/condition/sjogren-larsson-syndrome - Genetics
  2. Lesch-Nyhan syndrome 
    ... Nyhan Disease International Study Group. Delineation of the motor disorder of ... WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000 ...
    https://medlineplus.gov/genetics/condition/lesch-nyhan-syndrome - Genetics
  3. Hereditary neuropathy with liability to pressure palsies 
    ... Tian X, Carter BD, Suter U, Li J. Abnormal junctions and permeability of myelin in ... phenotype of hereditary neuropathy with liability to pressure ...
    https://medlineplus.gov/...opathy-with-liability-to-pressure-palsies - Genetics
  4. Spinocerebellar ataxia type 36 
    ... SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am J ... hexanucleotide GGCCUG repeat expansion in spinocerebellar ataxia type ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-36 - Genetics
  5. STXBP1 encephalopathy 
    STXBP1 encephalopathy is a condition characterized by abnormal brain function (encephalopathy) and intellectual disability. Most affected individuals also have recurrent seizures (epilepsy). The signs and symptoms of this condition typically begin in infancy ...
    https://medlineplus.gov/genetics/condition/stxbp1-encephalopathy - Genetics
  6. X-linked infantile spinal muscular atrophy 
    ... the production of an enzyme with reduced or abnormal function. As a result, damaged or unneeded proteins build ... death. Specialized nerve cells that control muscle movement (motor neurons) are particularly susceptible to disruptions in cell function, likely due to their large size. Loss of ...
    https://medlineplus.gov/...-linked-infantile-spinal-muscular-atrophy - Genetics
  7. Andermann syndrome 
    ... may require surgery.Andermann syndrome also results in abnormal function of certain cranial nerves, which emerge directly from ...
    https://medlineplus.gov/genetics/condition/andermann-syndrome - Genetics
  8. CHARGE syndrome 
    ... neck, controlling muscle movement and transmitting sensory information. Abnormal function of certain cranial nerves can cause swallowing problems, ... Affected individuals have a wide range of cognitive function, from normal ... problems; abnormal curvature of the spine (scoliosis or kyphosis); and ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
  9. UNC80 deficiency 
    ... typically get worse over time; development of intellectual function and motor skills, such as rolling over and sitting, is ... of the UNC80 protein or production of an abnormal protein. Absence of ... and function of the NALCN channelosome. Neuron excitability is thought ...
    https://medlineplus.gov/genetics/condition/unc80-deficiency - Genetics
  10. Xia-Gibbs syndrome 
    ... be quickly broken down or be unable to function. Or, the abnormal proteins may interfere with the function of AHDC1 proteins produced from the normal copy ...
    https://medlineplus.gov/genetics/condition/xia-gibbs-syndrome - Genetics
previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · next