stature Scoliosis Loss of pain sensation Loss of temperature sensation Heat intolerance Reduced sweating Walking difficulty Liver disease Contractures Causes - Navajo neurohepatopathy Not supplied. [checkorphan.org]

Clinical features include sensorimotor neuropathy, corneal ulcerations, acral mutilation, poor weight gain, short stature, sexual infantilism, serious systemic infections, and liver derangement including Reye9s syndrome-like episodes. [scinapse.io]

On recent examination, he had short stature ( View Full Text AAN Members: Sign in with your AAN member credentials (e-mail or 6-digit Member ID number) Non-AAN Member subscribers: Sign in with subscriber credentials Log in using your username and password [neurology.org]

MELAS patients often have short stature and major symptoms, including generalized tonic-clonic seizures, recurrent migraine headaches, muscle weakness or exercise intolerance, and sensorineural hearing loss. [thieme-connect.com]

At age 3 years, she was unable to stand without support. [ncbi.nlm.nih.gov]

The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. [ncbi.nlm.nih.gov]

Onset is during infancy, and clinical features include liver dysfunction and failure, developmental delay, failure to thrive, lactic acidosis and muscle weakness. Rarer symptoms include seizures, ataxia, and liver cancer. [sema4genomics.com]

The genetic disease is believed to be caused by maternal exposure to uranium from waters contaminated by old mines Symptoms - Navajo neurohepatopathy Sensory loss Muscle weakness Reduced reflexes Enlarged liver Failure to thrive Systemic infections Corneal [checkorphan.org]

Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of funtion, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic [orpha.net]

Clinical presentation includes failure to thrive, distal limb weakness with reduced sensation, limb contractures with loss of funtion, areflexia, recurrent metabolic acidosis with intercurrent illness, immunologic anomalies manifesting with severe systemic [orpha.net]

It is a progressive sensorimotor neuropathy with distal weakness, areflexia, and reduced sensation in the extremities associated with acral mutilation. The role of possible surgical intervention is demonstrated in this case. [link.springer.com]

At age 15 mo, she had marked abdominal distention and ascites, muscle wasting, hypotonia, and hyporeflexia. Brain MRI revealed diffuse leukoencephalopathy. One month later, she underwent liver transplantation. [ncbi.nlm.nih.gov]