nemaline myopathy

Compatible myopathy pattern

Record the distribution, onset and course of weakness and the evidence that supports a primary muscle disorder.

1. Which clinical features support nemaline myopathy, and which features suggest another neuromuscular disorder? boundary
2. Which named classification defines the disease spectrum and subtype used in this assessment? definition

Rod finding context

Preserve the original pathology report, sampling context and specialist interpretation, including uncertainty or discordance.

1. Which muscle was sampled, at what age, and by which methods were rods identified? provenance
2. How were incidental rods, alternative rod-associated disorders and discordant genetic findings considered? boundary
3. If biopsy evidence is absent or inconclusive, what evidence supports the diagnostic label and what remains unresolved? provenance

Variant and inheritance fit

Require an explicit interpretation of variant significance, inheritance compatibility and phenotype fit.

1. Which reported variants support attribution, and what are their classifications, zygosity, phase and supporting evidence? provenance
2. Does the family evidence support the proposed inheritance pattern, and what limitations prevent a firm recurrence-risk statement? boundary
3. What testing limitations or unresolved results justify specialist reanalysis? action

Sporadic late-onset attribution

Record evidence for acquired disease and relevant associated conditions without treating an association as proof of causation.

1. What evidence distinguishes an acquired presentation from inherited nemaline myopathy first recognized in adulthood? boundary
2. Were monoclonal gammopathy and HIV evaluated when clinically appropriate, and how do the results affect the specialist's interpretation? provenance

Weakness distribution and testing

Maintain regional strength findings with testing method, cooperation and mechanical limitations.

1. How do facial, neck, trunk, proximal and distal muscle performance differ on the same assessment date? measurement
2. Which findings reflect measured weakness, and which may reflect contractures, pain, fatigue or testing limitations? boundary

Change in motor capacity

Distinguish delayed acquisition, stable limitation and loss of previously demonstrated abilities.

1. Which milestones or daily activities were gained, retained or lost, and when? measurement
2. How do scoliosis, contractures, growth and changes in assistance affect interpretation of the observed trajectory? boundary

Respiratory state and trend

Record objective results, relevant symptoms and current support without deriving respiratory severity from ambulation.

1. What do feasible respiratory tests and sleep assessments show, including posture, reference equations and test quality? measurement
2. Which changes in breathing, cough effectiveness or support requirements warrant prompt review under the treating team's plan? action

Feeding function and consequences

Differentiate reported feeding difficulty from assessed swallowing dysfunction and documented nutritional effects.

1. What swallowing evidence documents safety, aspiration concern or uncertainty, and when was it obtained? provenance
2. How have feeding duration, intake, weight or growth and feeding assistance changed? measurement

Support plan applicability

Link each proposed or established support measure to its indication, responsible clinician and reassessment criteria.

1. Which documented findings justify respiratory, swallowing, nutritional, mobility or orthopedic support? action
2. What individualized monitoring and escalation plan applies, including respiratory and bulbar assessment before procedures? action

Evidence-matched options

Separate established supportive practice, subtype-specific evidence and investigational approaches using dated sources.

1. Does the cited intervention evidence concern inherited nemaline myopathy, acquired disease or another myopathy? boundary
2. What current evidence and eligibility criteria support specialist consideration of the proposed intervention or study? action
3. Which prognosis statements are supported for the relevant phenotype, and which exceed the available follow-up? provenance

Check these first

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these check these first hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Kinds and varieties

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these kinds and varieties hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Identifiers and schemes

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these identifiers and schemes hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Real-world use

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these real-world use hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Typical measurements

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these typical measurements hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Failure modes and hazards

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these failure modes and hazards hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance

Neighbouring kinds and how to tell them apart

Recalled without web access and unsourced; every item is a lead to verify.

1. Which of these neighbouring kinds and how to tell them apart hold for the sense of nemaline myopathy this model covers, and on what evidence? provenance