#chorea

Yes, I do! Here is a list of involuntary movements, a simple description, and links to resources on them:

Akathisia -> an inability to remain still

StatPearls article

cleveland clinic article (very good)

Akinesia -> the loss of spontaneous, voluntary muscle movement

StatPearls article (free article)

healthline article

Athetosis -> slow, continuous, involuntary writhing movements commonly affecting arms and hands

healthline article

Chorea -> rapid, chaotic movements that seem to flow from one body part to another

NINDS article

StatPearls article

Dystonia -> sustained or repetitious muscular contractions; often produces abnormal posture

mayo clinic article

NINDS article

StatPearls article

Hemiballismus -> sudden, intermittent, flinging, or ballistic high amplitude movements commonly affecting proximal limb muscles

StatPearls article

Myoclonus → sudden, brief, involuntary muscle twitches

mayo clinic article

NINDS article

StatPearls article

Parkinsonism -> a clinical syndrome characterized by slowness, rigidity, tremor, and postural instability

StatPearls article

parkinson's disease vs parkinsonism

types of parkinsonism (parkinson's UK)

types of parkinsonism (parkinson's foundation)

Stereotypies -> repetitive, rhythmic movements with typical onset in early childhood

stereotypies in adults

medlink article

Tardive Dyskinesia -> uncontrollable and repetitive movements of the tongue, lips, face, trunk, and extremities

webmd article

Tics -> sudden, rapid, recurrent, and nonrhythmic movements or vocalizations

mayo clinic article on tourette syndrome

NINDS article on tourette syndrome

child mind institute article on tics and tourette

Tremor -> rhythmic back-and-forth or oscillating involuntary movements

NINDS article

classification of tremor

(at request I can find Tumblr or blog posts talking about personal experiences with some of these movements)

hi besties, so i have lupus that is currently untreated and have been developing a lot of neurological issues, most likely as a consequence of this. we are suspecting:

1) cerebellar ataxia because i list to the left, i have an intention tremor, my balance has gone to hell standing & walking and is worse with my eyes closed, and i’ve got dysmetria (issues with finger-to-nose test)

2) some sort of movement disorder(s) affecting the basal ganglia. i experience what seems to be dystonia (slow twisting movements & muscles being held still in a certain position), chorea (jerky sudden movements), and ballismus (large flinging movements). the involuntary movements seem to get worse with directed movements, especially fine motor skills (possibly in some sort of relationship with the intention tremor), and strong emotions such as distress or excitement.

these have been getting significantly worse recently, and i’m especially concerned because my involuntary movements have “spread” to involve my legs and throat/tongue. i’m really struggling to find any practical advice & not just bullshit about exercise & taking care of your mental health or how brave caregivers are. my questions are including but not limited to:

if i’m walking while my legs start flinging, what do i do? i’ve started using my upright rollator around the house but i don’t think it could keep me from falling in that scenario

harm reduction in cooking for myself? i already don’t use knives but i’m worried about spilling boiling water or injuring myself with scissors

how to not break dishes. i need to use ceramic & glass because they can more reliably be cleaned for my allergy needs. someone suggested several small tables between the kitchen and couch which i’m going to try but would love any additional ideas as well

eating. i already use adaptive silverware and i think i’m going to invest in some bibs but it’s still so difficult

advice for choking - how to minimize it, what to do during it, etc

do you just take a pillow with you all the time or…? like i start hitting things around me really hard

we’re trying to find a community member who would be willing to drive me to appointments but in the event that i have to take a lyft somewhere, what do i tell the driver in case i start whacking their car?

if i for some reason have to be out alone, advice for not getting murdered by the police and/or forcibly hospitalized?

Episode 70: The Dancing Plague of 1518 Photodump

Hoor-Paar-Kraat - Chorea

Black Horizons

Genetics

Secondary to a mutation on the short arm of chromosome 4, in the HTT (aka IT15) gene: a CAG trinucleotide repeat, which encodes for the huntingtin protein.

HD is an autosomal dominant disorder with significant genetic anticipation: the sequence length is unstable and can expand during meiosis, especially down paternal inheritance lines.

It encodes a polyglutamine ('polyQ') stretch at the N-terminus of the huntingtin protein.

The anticipation helps us remember that this is a trinucleotide repeat disorder, specifically a CAG repeat disorder:

Classic trinucleotide repeat expansion disorders

Huntington's disease (CAG), myotonic dystrophy (CTG), and fragile X syndrome CGG) are the three classic trinucleotide repeat expansion disorders: the trinucleotide sequence is repeated many times in a row.

Additional CAG repeat disorders include: Kennedy's disease (aka X-linked spinal and bulbar muscular atrophy), spinocerebellar ataxia type 1 (SCA 1) and type 3 (SCA3, aka Machado-Joseph disease).

Pathology ("CAG" mneomnic)

We use the acronym CAG to highlight some key aspects of HD neuropathology:

On gross examination, there is caudate (C) and putamen (aka striatum) atrophy (A) with resultant anterior horn dilatation.

Accordingly, there is a loss of striatal GABAergic (G) medium spiny neurons, which is what primarily constitutes the striatum.

Mneomnic via Number 4

The HD gene is on chromosome 4

Greater than 40 CAG repeats is abnormal (but, truly, anything more than 36 can be symptomatic)

The average age of onset is 40 years-old but the longer the repeat length, the earlier the age of onset.

Onset younger than 20 years old, is referred to as Juvenile HD; it manifests with an akinetic-rigid syndrome, rather than chorea, referred to as the Westphal variant, which is typically the end-stage of HD in adults.

Clinical

HD is predominantly a neuropsychiatric and movement disorder.

It's often mistaken as alcoholism early on but ultimately becomes parkinsonian, later.

Typical survival from onset is 15 years, much like the timeline of degeneration in Parkinson's disease. Key domains:

Psychiatric. Depression and anxiety, early, and obsessive/compulsive thoughts, profound apathy, and physical aggression, later. Note that suicide is the 2nd most common cause of death in HD.

Cognitive. Executive dysfunction, early, such as trouble with organizational tasks, planning, and task sequencing.

Simple abnormal involuntary movements: tics, dystonia, myoclonus.

Complex abnormal involuntary movements: Chorea (excessive movements that flow from body part to body part).

Exploring Degenerative Diseases

Huntington’s Disease

Huntington’s Disease is an inherited neurodegenerative disease which causes damage to brain cells in the basal ganglia and cortex. It commonly occurs in people aged 35-55 years and results in movement, cognition and behaviour abnormalities.

Juvenile Huntington's Disease accounts for approximately 6% of all cases, affecting those aged 20 years or younger.  

Huntington’s Disease is characterised by ‘Chorea’; abnormal involuntary movement disorder. This can also affect speech, swallowing, posture and gait and often progresses to rigidity and

dementia in the later stages.

Symptoms include:

Chorea (loss of range and function)

Rigidity (loss of range, immobility, contractures, deformity and pain)

Spasm (exaggerated movements, pain)

Speech abnormality (communication problems)

Swallowing problems (chest infection, aspiration / choking)