Structural
This condition can present with pseudohypertrophy of the calves
Duchenne or Becker muscular dystrophy
This progressive movement disorder usually presents in adulthood, with intellectual and psychiatric changes
Huntington's disease
This disorder is often caused by a point mutation of 3243A>G
MELAS: myopathy, mitochondrial encephalopathy, lactic acidosis, and stroke
The appearance of the disease at an earlier age as it is transmitted over generations
Anticipation
This coagulation disorder plagued the royal family
Hemophilia A
The diagnostic criteria for this disorder is called the Ghent criteria, which considers variations in skeletal, ocular, cardiovascular, pulmonary, and skin systems.
Marfan syndrome
Person affected with this condition may have the following traits: lens displacement, tall height, joint laxity
Marfan syndrome
This highly common medical condition can also be associated with mutations in mtDNA
Diabetes mellitus
This mechanism is thought to underlie the expansion of unstable repeats
The slipped mispairing mechanism
Null alleles that impair the production of pro-alpha 1 chains, lead to this type of OI.
Type 1
Carrier females for Duchenne can be identified by elevated levels of this serum protein
Serum creatine kinase
Also known as Wednig-Hoffman disease, this progressive condition presents before 6mo, often within days of birth, with significant hypotonia and low movement
Type 1 Spinal Muscular Atrophy
The expression of this inherited mitochondrial disorder varies depending on an X-linked haplotype
Leber hereditary optic neuropathy
This condition has the most pleiotropic phenotype of all the unstable repeat expansion disorders
Myotonic Dystrophy 1
The mechanism accounting for the most common mutation found in severe Hemophilia A
intrachromosomal recombination, or the 'flip' inversion
This type of OI is characterized by blue sclerae, fractures, progressive bone deformity, and limited growth
Type III, progressive deforming
The clinical diagnostic criteria of this condition is: myoclonic epilepsy with ragged red fibres, myopathy, ataxia, sensorineural deafness, dementia
MERRF
This mitochondrial deletion disorder has generally sporadic inheritance, likely due to maternal gonadal mosaicism
Kearns-Sayre Syndrome
In Fragile X, these neurological structures appear as as abnormally long and immature
Dendritic spines
This condition is due to disruptions of a tumour suppressor gene in the RAS-MAPK pathway
Neurofibromatosis 1
This complex is thought to be essential for muscle membrane integrity, by linking the actin cytoskeleton to the extracellular matrix
the dystrophin-glycoprotein complex
This type of hemophilia is most severe during childhood but resolves after puberty
Hemophilia B Leyden
This condition has the following phenotype: Early-onset progressive neurodegeneration with hypotonia, developmental delay, optic atrophy, and respiratory abnormalities
Leigh Syndrome
The myotonic dystrophies appear to result from the expanded repeats sequestering RNA-binding proteins. As a consequence, these conditions are classified as _____.
spliceopathies
The most common inherited cause of intellectual disability worldwide
Fragile X