Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...

Neurofibromatosis

Neurofibromatosis (NF) is a genetic disease that causes tumors to develop in the nervous system. There are three types of neurofibromatosis that are each associated with unique signs and symptoms: Neurofibromatosis type 1 (NF1) causes skin changes (cafe-au-lait spots,...

Eosinophilic Granulomatosis With Polyangiitis (EPGA)

Other Names: CSS; Allergic granulomatous and angiitis; Allergic angiitis and granulomatosis; Allergic granulomatosis; Churg-Strauss vasculitis; Granulomatous allergic angiitis; Churg-Strauss syndrome; EGPA Eosinophilic granulomatosis with polyangiitis (EGPA), also...

Niemann-Pick Disease

Niemann-Pick disease (NPD) is a group of rare metabolic disorders in which harmful quantities of a fatty substance (lipids) accumulate in the spleen, liver, lungs, bone marrow, and brain. Symptoms may include lack of muscle coordination, brain degeneration, learning...

Hypokalemic Periodic Paralysis

Other Names: HOKPP; HypoPP Hypokalemic periodic paralysis (HOKPP) is characterized by episodes of muscle paralysis associated with a fall in blood potassium levels (hypokalemia). Episodes typically involve a temporary inability to move muscles in the arms and...

Hemophagocytic lymphohistiocytosis

Other Names:Familial hemophagocytic lymphohistiocytosis; Familial erythrophagocytic lymphohistiocytosis; Familial histiocytic reticulosis; FHL; HLH Hemophagocytic lymphohistiocytosis (HLH) is a condition in which the body makes too many activated immune cells...
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