X-Nico

unusual facts about Neuropathy, ataxia, and retinitis pigmentosa



Ataxia telangiectasia

Ataxia-telangiectasia like disorder (ATLD) is an extremely rare condition, caused by mutation in the hMre11 gene, that could be considered in the differential diagnosis of A-T.

Betamethasone

In a randomized controlled trial Betamethasone was shown to reduce some of the ataxia symptoms associated with Ataxia Telangiectasia (A-T) by 28-31%.

Dystaxia

Ataxia, reduced control of muscles, resulting in loss of coordination, balance etc.

Fahrettin Kerim Gökay

He then carried out studies between 1922 and 1924 at universities of Munich and Hamburg in Germany as well as at University of Vienna, Austria, specializing in neuropathy.

Familial amyloid neuropathy

Alternatively, a European Medicines Agency approved drug Tafamidis or Vyndaqel now exists which stabilizes transthyretin tetramers comprising wild type and different mutant subunits against amyloidogenesis halting the progression of peripheral neuropathy and autonomic nervous system dysfunction.

Frenkel exercises

The exercises were developed by Heinrich Frenkel, a Swiss neurologist who, one day in 1887, while examining a patient with ataxia, observed the patient's poor performance of the finger-to-nose test.

Neuropathy, ataxia, and retinitis pigmentosa

Mutations in the MT-ATP6 gene cause neuropathy, ataxia, and retinitis pigmentosa.

The MT-ATP6 protein forms one part (subunit) of an enzyme called ATP synthase, which is responsible for the last step in ATP production.

Oluwakayode Osuntokun

In the late 1960s, he investigated cases of ataxic neuropathy in Epe where residents usually consume a dose of ill processed cassava with little or no supplement.

Pellagra

Ataxia (lack of coordination), paralysis of extremities, peripheral neuritis (nerve damage)

Small fiber peripheral neuropathy

A recent study revealed dysfunction of a particular sodium channel (Nav1.7) in a significant portion of the patient population with an idiopathic small fiber neuropathy.

The Movement Disorder Society

The field of Movement Disorders includes the following areas: Parkinson's disease and parkinsonism, ataxia, dystonia, chorea and Huntington's disease, tics and Tourette syndrome, myoclonus and startle, restless leg syndrome, stiff person syndrome, tremor and essential tremor, and gait disorders.

Triceps reflex

An absence of reflex can be an indicator of several medical conditions: Myopathy, neuropathy, spondylosis, sensory nerve disease, neuritis, potential lower motor neuron lesion, or poliomyelitis.


see also