Mindblown: a blog about philosophy.
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Giant axonal neuropathy
Giant axonal neuropathy (GAN) is a rare neurologic disorder characterized by slowly progressive peripheral neuropathy and signs of central impairment. Common symptoms include muscle weakness and wasting, visual impairments, ataxia, and, at later stages, mental decline and dementia.
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Neuronal migration disorders
Neuronal migration disorders (NMDs) are a group of disorders caused by the abnormal migration of nerve cells (neurons) very early in the development of the fetal nervous system. Neuronal migration is the process in which neurons move from their place of origin to their permanent location. When this process is disrupted, the result is a…
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Type 2 neurofibromatosis
Neurofibromatosis Type 2 (NF-2) is a less common type of neurofibromatosis. Neurofibromatoses are genetically transmitted disorders of the nervous system that often have an autosomal dominant pattern of transmission. These disorders may cause tumor growth on nerves and other abnormalities, such as multiple skin changes (e.g., cafe au lait spots) and bone deformities (National Institute…
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Type 1 neurofibromatosis
Neurofibromatosis is one of a series of disorders described as neurocutaneous syndromes (phakomatoses). Neurofibromatosis is an autosomal dominant genetic disorder that affects the development and growth of ectodermal tissues. There are two distinctive forms of NF, Type 1 (NF-1) and Type 2 (NF-2). NF-1 is characterized by multiple hyper pigmented areas and peripheral neurofibromas. NF-2…
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Neurocutaneous melanosis
Neurocutaneous melanosis (NM) is a rare congenital syndrome characterized by the presence of multiple or large melanocytic nevi (moles or birthmarks) in association with benign or malignant pigment cell tumors of the leptomeninges (pia mater and arachnoid mater). A rare disorder marked by the presence of multiple or large pigmented nevi on the skin and…
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Neuroacanthocytosis
Neuroacanthocytosis (NA), also known as Levine- Critchley syndrome, is a rare neurological disease associated with malformed red blood cells (also known as acanthocytes). Historically, NA has also been referred to as familial amyotrophic chorea with acanthocytosis or chorea- acanthocytosis, each referring to the common motor symptoms: chorea of the limbs, mouth, and tongue as well…
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Neu-laxova syndrome
Neu-Laxova syndrome (NLS) is a rare, hereditable disorder of brain formation. Associated anomalies of the face, skin, extremities, and eyes are also common.
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Nail-patella syndrome
Nail-patella syndrome (NPS) is a rare genetic disorder of connective tissue. The most frequently affected organs are nails, bone, eye, and kidney.
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Myotonia congenita
Myotonia congenita is a hereditary muscle disease that belongs to a group of myotonic disorders seen in children. Myotonia congenita comes in two forms; autosomal dominant form (DMC), also known as Thomsen’s disease, and autosomal recessive form, or recessive generalized myotonia (RGM). The autosomal dominant myotonia congenita is slightly less severe, although both forms are…
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Inclusion body myositis
Myositis is a rare disease that comes in multiple forms and is one of the inflammatory muscle myopathies. As with other inflammatory myopathies, myositis is believed to be an autoimmune disorder in which inflammatory cells surround, invade, and destroy muscle fibers resulting in muscle weakness or rash. Inclusion body myositis or myopathy is similar to…
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