Cytoskeletal defects

long-term degenerative neurological disorder

Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease (MND) or '''Lou Gehrig's disease''', is a rare terminal neurodegenerative disease defined by the progressive loss of both upper and lower motor neurons that normally control voluntary muscle contraction. ALS is the most common of the motor neuron diseases. ALS often presents in its early stages with gradual muscle stiffness, twitches, weakness, and wasting. Motor neuron loss typically continues until the ability to eat, speak, move, and breathe without mechanical support is lost. It is estimated that at least 50% of people

disease in which the heart muscle is enlarged

neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm

disease characterized by an enlarged heart

condition involving delayed repolarization of the heart during the heartbeat cycle

syndrome characterized by a combination of hearing loss and visual impairment

group of dominantly inherited, predominately late-onset, cerebellar ataxias. Neuro-developmental outcome and brain-derived neurotrophic factor level in relation to feeding practice in early infancy.

rare disease

congenital disorder of nervous system

congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape

genetically and clinically heterogeneous group of neurodegenerative disorders characterized by progressive spasticity and hyperreflexia of the lower limbs

Tauopathies are a class of heterogeneous neurodegenerative diseases characterized by the neuronal and glial aggregation of abnormal tau protein. Hyperphosphorylation of tau proteins causes them to dissociate from microtubules and form insoluble aggregates called neurofibrillary tangles. Various neuropathologic phenotypes have been described based on the anatomical regions and cell types involved as well as the unique tau isoforms making up these deposits. The designation 'primary tauopathy' is assigned to disorders where the predominant feature is the deposition of tau protein. Alternatively,

ciliopathy with impaired function of the cilia lining the respiratory tract and fallopian tube

autosomal genetic disease characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities

human disease

Monilethrix (also referred to as beaded hair) is a rare autosomal dominant hair disease that results in short, fragile, broken hair that appears beaded. It comes from the Latin word for necklace (monile) and the Greek word for hair (thrix). Hair becomes brittle, and breaks off at the thinner parts between the beads. It appears as a thinning or baldness of hair and was first described in 1897 by Walter Smith

human disease

rare and severe form of ichthyosis

Human disease

medical condition

Osteopoikilosis is a benign, autosomal dominant, sclerosing (hardening) dysplasia of bone characterized by the presence of numerous bone islands in the skeleton.

medical condition

disease

Laminopathies (lamino- + -pathy) are a group of rare genetic disorders caused by mutations in genes encoding proteins of the nuclear lamina. Since the first reports of laminopathies in the late 1990s, increased research efforts have started to uncover the vital role of nuclear envelope proteins in cell and tissue integrity in animals. Laminopathies are a group of degenerative diseases, other disorders associated with inner nuclear membrane proteins are known as nuclear envelopathies.

Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2

Acquired partial lipodystrophy, or Barraquer-Simons syndrome, is characterised by the association of lipoatrophy of the upper part of the body and lipohypertrophy of the thighs

The human gene SPAST codes for the microtubule-severing protein of the same name, commonly known as spastin.

skin disease characterized by a defect in the normal process of keratinization of the mucosa

disorder resulting from mutations in the genes encoding keratin 5 or keratin 14

group of rare skin disorders in the ichthyosis family of skin