Spastic quadriparesis syndrome means weakness in all four limbs with increased muscle tone (stiff, tight muscles) because the upper motor neuron (UMN) system ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Neurolipomatosis means there is an overgrowth of normal fat and fibrous tissue inside a peripheral nerve. The nerve becomes thick, bulky, and sometimes feels ...
Familial Danish Dementia is a very rare, inherited brain disease. It runs in families in an autosomal dominant way (if one parent has the faulty gene, each ...
Cerebral amyloid angiopathy, or CAA, is a disease of the small and medium blood vessels on the surface and in the outer parts of the brain. In CAA, a protein ...
Acute type M3 myeloid leukemia is a fast-growing blood cancer where many immature white cells called promyelocytes build up in the bone marrow and blood. These ...
Acute hemorrhagic encephalomyelitis is a sudden and very aggressive inflammation of the brain (and sometimes the spinal cord). It attacks the white matter, ...
Acute haemorrhagic leucoencephalitis (AHLE)—also called Hurst disease, Weston Hurst syndrome, acute haemorrhagic encephalomyelitis (AHEM)—is a very rare, ...
Acute flaccid myelitis (AFM) is a sudden illness that damages the gray matter of the spinal cord, especially the front (anterior horn) cells that control ...
Mean Corpuscular Volume (MCV) is a blood test measurement that shows the average size of your red blood cells. Red blood cells carry oxygen from your lungs to ...
Dr. Leslie A Andritsos, MD -Hematology and Oncology
Functional Neurological Symptom Disorder (FNSD) is a condition where individuals experience real neurological symptoms—such as weakness, tremors, or ...
Dr. Mona Adeli MD - Ophthalmologist
Sjögren–Larsson syndrome is a rare, inherited disorder that affects both the skin and the nervous system. It arises because of a deficiency of the enzyme fatty ...
Dr. Emily Black Davis, MD - Clinical, Biochemical Genetics, and Rare Diseases Specialist
Congenital Myasthenic Syndromes (CMS) are a group of inherited disorders affecting the safety and reliability of signal transmission at the neuromuscular ...
Progressive Supranuclear Palsy (PSP) is a rare, progressive neurodegenerative disorder characterized by the abnormal accumulation of tau protein in certain ...
Abducens nerve palsy is a condition in which the sixth cranial nerve (the abducens nerve) does not function properly, leading to weakness or paralysis of the ...
Mixed sensory-autonomic ganglionopathy (MSAG) is a rare disorder in which both sensory and autonomic ganglia—the nerve cell clusters responsible for ...
Small-fiber sensory ganglionopathy (SFSG) is a rare disorder characterized by selective injury to the cell bodies (ganglia) of the small-diameter sensory ...
Large-fiber sensory ganglionopathy, also known as sensory neuronopathy, is a disorder in which the sensory neurons located in the dorsal root ganglia—the ...
Vasculitic Sensory Ataxic Neuropathy is a rare form of peripheral nerve injury in which inflammation of the small blood vessels (vasculitis) supplying the ...
Sarcoidosis-related sensory neuropathy is a form of peripheral nerve damage that arises as a complication of sarcoidosis, a multisystem granulomatous disease. ...
POEMS syndrome is a rare multisystem disorder caused by an underlying plasma cell disorder. The name “POEMS” stands for Polyneuropathy, Organomegaly, ...
