The muscular dystrophies are important inherited disorders of muscle. They are characterised by their sheer diversity, their multifaceted presentations, and their complicated diagnostic pathways.

By Cbenner12 – Own work, CC BY-SA 3.0, Link

Some muscular dystrophies are relatively easy to recognise and diagnose. These include Duchenne’s muscular dystrophy (DMD), facio-scapulo-humeral muscular dystrophy (FSHD), myotonic dystrophy, and Emery Dreifuss muscular dystrophy (EDMD).

By Mantas1234512345 – Own work, CC BY-SA 4.0, Link

In contrast, limb girdle muscular dystrophies (LGMD) are quite complex. They result from abnormalities in a staggering array of muscle proteins such as calpein, sarcoglycan, lamin, myotilin, and desmin. They are challenging for neurologists to diagnose, not only because they require sophisticated muscle tests to pin down, but because new types are being churned out at a breath-taking pace. There are now 8 that are inherited dominantly (LGMD 1A-1H) and… wait for it…26 which are inherited recessively (LGMD 2A-2Z).

Human Differentiated Myotubes. NIH Image Gallery on Flikr. https://www.flickr.com/photos/nihgov/27773079304

How does one negotiate the maze of limb girdle muscular dystrophies? Checklists of course. Neurochecklists now cover the entire spectrum of muscular dystrophies. For a taster, below are links to the A-Z of LGMD2, listed with their affected genes.

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LGMD 2A: CAPN3

LGMD 2B: DYSF

LGMD 2C:  SGCG

LGMD 2D: SCGA

LGMD 2E: SCGB

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LGMD 2F: SCGD

LGMD 2G: TCAP

LGMD 2H: TRIM32

LGMD 2I: FKRP

LGMD 2J: TTN

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LGMD 2K: POMT1

LGMD 2L: ANO5

LGMD 2M: FKTN

LGMD 2N: POMT2

LGMD 2O: POMGNT1

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LGMD 2P: DAG1

LGMD 2Q: PLEC1

LGMD 2R: DES

LGMD 2S: TRAPPC11

LGMD 2T: GMPPB

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LGMD 2U: ISPD

LGMD 2V: GAA

LGMD 2W: LIMS2

LGMD 2X: POPDC1

LGMD 2Y: TOR1AIP1

LGMD 2Z: POGLUT1

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Everything from a to z. Tom Magliery on Flikr. https://www.flickr.com/photos/mag3737/2447610821

Feeling overwhelmed? Why not first try the summarising checklists:

LGMD 1: KEY FEATURES

LGMD 2: KEY FEATURES

Go on then…explore!



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