Glossary

Mindblown: a blog about philosophy.

  • Facioscalpulohumeral muscular dystrophy

    Facioscalpulohumeral muscular dystrophy is a neuromuscular disease also referred to as FSHD, FSH, FMD, and Landouzy-Dejerine muscular dystrophy. FSHD involves a wasting of the muscles that move the face (facio), shoulders (scapula), and upper arm bone (humerus). FSHD is autosomal dominant in males and females; however, there are instances (10-30% of affected individuals) of FSHD…

  • Emery-dreifuss muscular dystrophy

    Emery-Dreifuss muscular dystrophy is a degenerative myopathy in which there is slow, progressive, symmetrical weakness of skeletal and cardiac muscles. There are early contractures of the neck, elbows, and ankles (Achilles tendons), often predating the muscle weakness of the shoulder girdle (scapular), upper arms (humeral), and lower legs (peroneal; Emery, 2000; Muscular Dystrophy Association [MDA],).…

  • Duchenne muscular dystrophy

    Duchenne muscular dystrophy is a degenerative disorder in which there is progressive symmetrical weakness of skeletal muscles with proximal muscles affected more than distal and lower limbs affected first. The etiology is genetic, with an X-linked recessive transmission, usually familial, but with a relatively high occurrence (15-30%) of transmission via mutation. The specific genetic mechanism…

  • Mulibrey nanism syndrome

    Mulibrey nanism syndrome (MNS), also known as Per-heentupa syndrome, is a hereditary form of dwarfism first described in 1970. The word mulibrey derives from an acronym for the organs most affected in this syndrome: (mu)scle, (li)ver, (br)ain, and (ey)es. Nanism is a synonym for dwarfism.  

  • Mucopolysaccharide disorders

    Mucopolysaccharide disorders are rare inborn errors of metabolism (IEM) resulting from a failure in mucopolysaccharide metabolism. They are among a larger group of disorders, all of which involve disordered lysosomal (complex carbohydrate) storage. Each has a specific enzymatic defect and genetic transmission (National MPS Society, 2001). Seven groups of syndromes with overlapping features are currently…

  • Mucha habermann disease

    Mucha Habermann disease or Habermann disease is one of a subgroup of parapsoriasis and pityriasis. Habermann disease also is known as pityriasis lichenoides. Habermann can occur in an acute form or in a chronic form. As with other diseases within the pityriasis group, it is characterized by skin eruptions. In the acute form, the disease…

  • Moyamoya disease

    Moyamoya disease (MD) is a rare, heritable neurologic disorder characterized by narrowing and occlusion (blockage) of arteries in the neck and brain. Moyamoya is a Japanese term meaning “hazy, like a puff of smoke drifting in the wind.” This nomenclature originates from the appearance of cerebral angiograms (X rays of the brain done after injecting…

  • Motor speech disorders

    Developmental motor speech disorders are a class of disorders that include several forms of dysarthria and apraxia of speech. The dysarthrias were categorized by Darley, Aronson, and Brown (1975) as flaccid, spastic, hyperkinetic, hypokinetic, ataxic, and mixed. The hallmark of a motor speech disorder is mild to severe speech production problems. These problems may include…

  • Monilethrix

    Monilethrix is a rare genetic disorder of the hair; it is one of the keratin disorders. Hair keratins have two forms, one acidic and one basic; in monilethrix, one or both of the keratin genes have mutated. The effect of the disorder on the individual’s hair is variable. In most cases the hair is thin…

  • Moebius syndrome

    Moebius syndrome is characterized by paralysis of the facial muscles (diplegia), resulting in an inability to produce facial expressions corresponding to common emotions. This paralysis leaves the child with an unchanging, mask-like face. Cranial nerves VI and VII specifically are affected; involvement of these nerves is a primary criterion for diagnosis of Moebius syndrome. In…

Got any book recommendations?

Get In Touch