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Research draft

muscular disease

vr.tr.muscular-disease · XCT.STA

Let an agent give general, non-diagnostic information about muscle diseases, flag urgent symptoms, and route people to specialists and patient organisations.

Thing Registry Cross-cutting context

Research draft, second pass

A second pass drafted this model: the structure a model of this thing needs, and what is known about it in the world. The line under this one says how the second half was obtained - researched against sources, or recalled without web access, in which case nothing here was read anywhere and every claim is a lead to verify. Unreviewed either way.

written by Claude from model knowledge without web access - no source was read, every claim is a lead to verify

Researched by: Claude

Purpose and description

Let an agent give general, non-diagnostic information about muscle diseases, flag urgent symptoms, and route people to specialists and patient organisations.

Any disease or disorder affecting muscle, such as muscular dystrophies, myopathies, myositis, disorders of muscle tone and rare muscle tumours; the registry also lists some unrelated conditions.

What it is for: A group of medical conditions diagnosed and treated by health professionals.

It can be seek assessment for weakness or pain; access neuromuscular specialists; find patient support organisations; get urgent care for severe symptoms.

Distinguishing features

Disorders of muscle

Inherited or acquired

Wide range of severity

Specialist diagnosis

What it looks like

Not described; symptoms may include weakness, pain, stiffness or reduced tone.

How it is recognised

Conditions such as muscular dystrophy or myositis

Tests such as CK levels, EMG and biopsy

Some registry aliases belong to other organ systems

Related models

is a kind of - category

musculoskeletal disorder

affects - tissue

muscle

is treated by - professionals

neurologist and neuromuscular specialist

is related to - neuromuscular

nerve disease

In practice

Families and kinds

muscular dystrophies

inflammatory myopathies

metabolic and mitochondrial myopathies

disorders of muscle tone

muscle tumours

Identifiers

ICD-11 various codes in chapters 8 and 15 muscle diseases

Standards and regulation

Clinical guidelines for neuromuscular disease

Rare disease networks such as ERN EURO-NMD

Failure modes and hazards

Diagnosis by an agent

Missing urgent signs such as breathing or swallowing difficulty

Unproven treatments

Also called

muscle neoplasmabdominal rigiditymuscle symptomflaccidityflaccid muscle tonesinoatrial node diseasepolymyalgia rheumaticadecreased tongue tonehereditary myopathy with lactic acidosis due to ISCU deficiencyacquired skeletal muscle diseasecongenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndromehereditary proximal myopathy with early respiratory failuremyopathy of critical illnessdysferlinopathyperiodic paralysis with transient compartment-like syndromeAcquired non-inflammatory myopathyproximal myopathy with extrapyramidal signsmetabolic myopathyneurogenic scapuloperoneal syndrome, Kaeser typecongenital myopathy, Paradas typespheroid body myopathyHereditary inclusion body myopathymetabolic myopathy due to lactate transporter defectautosomal dominant mitochondrial myopathy with exercise intolerancemuscular lipidosismyofibrillar myopathy 5proximal myopathy and ophthalmoplegiamyofibrillar myopathy 3muscle diastasismuscular hypertonia, lethalneonatal hypotoniatubular aggregate myopathy 2GNE myopathyacute myopathy of intensive careWhite stripinggas gangrenemyotilinopathymuscle rigidityhypotoniaperiodic paralysis

+43

Where this came from

wikidata · CC0 1.0

Source repository Registry entry point

Drafted structure

Bundle to layer to finding to question, as the second pass will find it: 4 bundles · 8 layers · 8 findings · 16 questions.

Urgent Red flags first.

Some symptoms need urgent care.

Red flags

Breathing and swallowing.

Red flags

Urgent signs.

  1. Are there signs such as difficulty breathing or swallowing that need urgent care? boundary
  2. Who should be called? action

Assessment

See a doctor.

Assessment

Assessment.

  1. Should new weakness or muscle pain be assessed by a doctor? boundary
  2. How soon? boundary
Care Diagnosis and treatment.

Specialists diagnose.

Tests

Investigations.

Tests

Investigations.

  1. Which tests might specialists use? definition
  2. What do they involve? definition

Treatment

Options.

Treatment

Treatment.

  1. Which treatments do guidelines describe for this condition? provenance
  2. Who decides with the patient? boundary
Living with it Support.

Support improves life.

Therapy

Physio and aids.

Therapy

Therapy and aids.

  1. Which therapies and aids can help daily life? action
  2. How are they accessed? action

Organisations

Patient groups.

Organisations

Patient organisations.

  1. Which patient organisations offer support? action
  2. Are there clinical trial registries? provenance
Information Understanding.

Reliable information helps.

Types

Conditions.

Types

Condition types.

  1. Which condition is meant? definition
  2. Which specific entry fits? action

Genetics

Inheritance.

Genetics

Genetics.

  1. Is the condition inherited, and is genetic counselling available? boundary
  2. Who provides it? action

What the second pass must settle

  • Should muscle disease groups be separate entries?
  • How should misfiled aliases be moved?
  • How should patient organisations be localised?
Draft as JSON