Huntington’s Disease: Or something else? Differential Diagnosis

Blood, hematopoietic organs-immune system (D50-D90).

  • Antiphospholipid syndrome (APS; antiphospholipid antibody syndrome) – autoimmune disease; predominantly affects women (gynecotropia); characterized by the following triad:
  • Takayasu’s arteritis – granulomatous vasculitis (vascular inflammation) of the aortic arch and outgoing great vessels; almost exclusively in young women.

Endocrine, nutritional and metabolic diseases (E00-E90).

  • Acute intermittent porphyria (AIPe) – genetic disorder with autosomal dominant inheritance; patients with this disease have a 50% reduction in the activity of the enzyme porphobilinogen deaminase (PBG-D), which is sufficient for porphyrin synthesis. Triggers of a porphyria attack, which can last a few days but also months, are infections, drugs or alcohol. The clinical picture of these attacks presents as acute abdomen or neurological deficits, which can take a lethal course. The leading symptoms of acute porphyria are intermittent neurologic and psychiatric disturbances. Autonomic neuropathy is often in the foreground, causing abdominal colic (acute abdomen), nausea (nausea), vomiting, or constipation (constipation), as well as tachycardia (heartbeat too fast: > 100 beats per minute) and labile hypertension (high blood pressure).
  • Hypoglycemia (hypoglycemia).
  • Hypo-/hypernatremia (sodium deficiency/sodium excess).
  • Hypocalcemia (excess calcium)
  • Hypoparathyroidism (parathyroid insufficiency).
  • Hyperthyroidism (hyperthyroidism)
  • Liver failure including chronic acquired hepato-cerebral degeneration.
  • Nonketotic hyperglycemia (NHK) in diabetes mellitus – metabolic disorder characterized by hyperglycemia (hyperglycemia), hyperosmolar plasma, extreme dehydration (lack of fluids), and alterations in consciousness in the absence of relevant ketosis (increase in concentration of acidic ketone bodies)
  • Renal failure

Cardiovascular system (I00-I99)

  • Apoplexy (stroke; ischemic or hemorrhagic infarcts).

Infectious and parasitic diseases (A00-B99).

  • Other bacterial encephalitides (brain inflammations).
  • HIV encephalopathy (HIVE) – infection of the central nervous system with HIV.
  • Bacterial endocarditis (inflammation of the inner wall of the heart).
  • Diphtheria – infectious disease caused by Corynebacterium diphtheriae.
  • Cognitive impairment
  • Cryptococcosis (fungal disease caused by Cryptococcus neoformans) with CNS involvement.
  • Mastikatorische Myorhythmien – involuntary rhythmic twitching, the masticatory act (mastication) concerning.
  • New variant of Creutzfeldt-Jakob disease.
  • Neurobrucellosis – Brucellosis-related disease symptoms of the nervous system.
  • Neuroborreliosis – Lyme disease-related disease symptoms of the nervous system.
  • Neurolues – late stage of syphilis in which there is demyelination of the spinal cord.
  • Neuro-cysticercosis – infestation of humans with larvae of the pork tapeworm (Taenia solium) and consequently the nervous system.
  • Cerebral toxoplasmosis – toxoplasmosis of the brain.

Mouth, esophagus (food pipe), stomach and intestines (K00-K67; K90-K93).

  • Whipple’s disease – rare systemic infectious disease; caused by the gram-positive rod bacterium Tropheryma whippelii (from the actinomycete group), which can affect several other organ systems in addition to the obligately affected intestinal system and is a chronic recurrent disease; symptoms: Fever, arthralgia (joint pain), brain dysfunction, weight loss, diarrhea (diarrhea), abdominal pain (joint pain) and many more.

Psyche – Nervous System (F00-F99; G00-G99).

  • Ataxia (movement disorder) with occulomotor apraxia (speech disorder).
  • Benign hereditary chorea – non-progressive hereditary (inherited) extrapyramidal motor movement disorders in childhood.
  • Movement disorders such as tics (irregularly repeated rapid movements or twitching).
  • Chorea-acanthocytosis (ChAc) – form of neuroacanthocytosis; manifestation usually in the third to fifth decade of life with movement disorders.
  • Chorea in synaptic (idiopathic and paraneoplastic) autoimmune encephalitides (autoimmune inflammatory diseases of the gray matter of the central nervous system).
  • Chorea gravidarum (often SLE or APS as cause; chorea during pregnancy).
  • C9orf72 mutations as triggers of amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD).
  • Dentatorubro-pallidoluysian atrophy (DRPLA) – very rare congenital form of autosomal dominant cerebellar ataxia (ADCA).
  • Friedreich’s ataxia (FA; Friedreich’s disease) – genetic disorder with autosomal recessive inheritance; degenerative disease of the central nervous system leading, among other things, to movement disorder; most common hereditary form of ataxia (movement disorder); disease generally sets in during childhood or early adulthood.
  • FOXG1 – rare mutation of the FOXG1 gene that disrupts brain development and function.
  • Any forms of Creutzfeldt-Jakob disease – disease of the central nervous system that leads to progressive (progressive) dementia.
  • Lesch-Nyhan syndrome (LNS; synonyms: hyperuricemia syndrome; hyperuricosis) – X-linked recessive inherited metabolic disease of the rheumatic type (disorder in purine metabolism).
  • Louis Bar syndrome (synonyms: Ataxia teleangiectatica (Ataxia teleangiectasia); Boder-Sedgwick syndrome) – autosomal recessive inheritance; first symptoms around the second to third year of life; cerebellar ataxia (gait and stance unsteadiness) with cerebellar atrophy (substance wasting); Teleangiectasia (dilatation of small arteries) mainly on the face and conjunctiva of the eye; T-cell defect and associated decreased immunocompetence; hypersalivation (synonyms: Sialorrhea, sialorrhea or ptyalism; increased salivation) and hypogonadism (gonadal hypofunction)).
  • Leigh’s disease (Leigh syndrome) – genetic disorder with disturbance of mitochondrial energy metabolism.
  • Parkinson’s disease
  • Neuroacanthocytoses (Huntington disease like 2, autosomal recessive chorea-acanthocytosis, McLeod syndrome).
  • Neurodegeneration with iron deposition in the brain.
  • Neuroferritinopathy – autosomal dominant basal ganglia disease with late manifestation.
  • Neurosarcoidosis – Inflammatory systemic disease affecting the skin, lungs, and nervous system.
  • Niemann-Pick C (Synonyms: Niemann-Pick disease, Niemann-Pick syndrome, or sphingomyelin lipidosis) – genetic disorder with autosomal recessive inheritance; belongs to the group of sphingolipidoses, which in turn are classified as lysosomal storage diseases; main symptoms of Niemann-Pick disease type A are hepatosplenomegaly (liver and spleen enlargement) and psychomotor decline; no cerebral symptoms are observed in type B).
  • Paraneoplastic (occurring during tumor disease) chorea with antibodies to onconeural (intracellular) antigens
  • Paroxysmal choreoathetosis (combination of chorea and athetosis/movement disorder) with infantile febrile convulsions
  • Paroxysmal kinesiogenic dyskinesia (disorder of the sequence of a movement).
  • Paroxysmal non-kinesiogenic dyskinesia
  • Psychosis
  • Rasmussen’s syndrome (synonym: Rasmussen’s encephalitis) – encephalitis (brain inflammation) of non-infectious genesis limited to one cerebral hemisphere.
  • SETX mutation – trigger of cerebral ataxia (disorders of movement coordination caused by pathological changes in the brain).
  • Spinocerebellar ataxias – disorders of movement coordination caused by pathological changes in the cerebellum and spinal cord.
  • Steroid-responsive encephalopathy (pathological brain changes) in autoimmune thyroiditis (AIT; Hashimoto’s thyroiditis; autoimmune disease of the thyroid gland).
  • Sydenham chorea (affection of the corpus striatum; almost only in children).
  • Systemic lupus erythematosus (SLE) – group of autoimmune diseases in which the formation of autoantibodies occurs. It is one of the collagenoses.
  • Tardvie dykinisie (synonym: tardive dyskinesia) – movement disorders (dyskinesias) that occur after long-term therapy with dopamine antagonists.
  • Tuberous cerebral sclerosis – autosomal dominant disease with malformations and tumors of the brain.
  • Central pontine myelinolysis (ZPM) – neurological disorder in which there is damage to the sheathing of nerve fibers, especially in the pons (brainstem) /extrapontine myelinolysis (variant of ZPM).
  • Zeroid lipofuscinosis – autosomal recessive lysosomal storage defect.

Neoplasms – tumor diseases (C00-D48).

  • Neoplasms

Other differential diagnoses

Operation

  • Postpump chorea (PPC) after cardiac surgery – acute chorea syndrome after cardiac surgery on hypothermic cardiopulmonary bypass (“CPB”).

Medication