Unlike the DSM and ICD, some approaches are not based on identifying distinct categories of disorder using dichotomous symptom profiles intended to separate the abnormal from the normal. There is significant scientific debate about the relative merits of categorical versus such non-categorical (or hybrid) schemes, also known as continuum or dimensional models. A spectrum approach may incorporate elements of both. In the scientific and academic literature on the definition or classification of mental disorder, one extreme argues that it is entirely a matter of value judgements (including of what is normal) while another proposes that it is or could be entirely objective and scientific (including by reference to statistical norms). Common hybrid views argue that the concept of mental disorder is objective even if only a "fuzzy prototype" that can never be precisely defined, or conversely that the concept always involves a mixture of scientific facts and subjective value judgments. Although the diagnostic categories are referred to as disorders, they are presented as medical diseases, but are not validated in the same way as most medical diagnoses. Some neurologists argue that classification will only be reliable and valid when based on neurobiological features rather than clinical interview, while others suggest that the differing ideological and practical perspectives need to be better integrated.The DSM and ICD approach remains under attack both because of the implied causality model and because some researchers believe it better to aim at underlying brain differences which can precede symptoms by many years.
Autosomal recessive axonal neuropathy with neuromyotonia, also known as Gamstorp-Wohlfart syndrome, is a rare hereditary disorder which is characterized by progressive poly-neuropathy, neuromyotonia, myokymia, pseudo-myotonia, hand-foot contractures, and abnormal neuro-myotonic/myokimic activity visible on needle EMG. According to OMIM, around 52 cases have been reported in medical literature However; new cases (mostly from Europe and North America) have been reported since 2014. Description
People with this disorder usually show the following symptoms: axonal neuropathy, atrophy (wasting/degeneration) of the muscles in the hands, feet and legs, chronic muscular weakness which is very apparent when exercise is being done, abnormal gait, high chance of accidental falls, and joint contractures, neuromyotonia, and myokymia. In some people, the axonal neuropathy ends up reducing their sensitivity to cold and hot temperatures and touch in the distal parts of the arms and legs. Some of the symptoms worsen temporarily when a person with this disorder is exposed to cold temperatures. Causes
This disorder is caused by a homozygous mutation in the HINT1 gene, in chromosome 5 (c.334 C > A, p.H112 N). Etimology
This condition was discovered in 1991 by Hahn et al., when they described two Chinese-Canadian siblings of the opposite sex.