Myofibrillar myopathy

Description

Myofibrillar myopathies are a heterogeneous group of disorders, characterised by the pathologic finding of myofibrillar disruption on electron microscope with a spectrum of histological abnormalities including excessive desmin accumulation in muscle fibres.

Index terms

Myofibrillar myopathy
MFM - [myofibrillar myopathy]
Desmin myopathy

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Desmin aggregate myopathy
Desmin protein surplus myopathy
Myotilin myopathy
Myotilinopathy
Alpha B crystalline myopathy
Fatal infantile hypertonic myofibrillar myopathy
Filamin C myopathy
Filaminopathy
Z-band alternatively spliced PDZ motif containing-protein myopathy
ZASP - [Z-band alternatively spliced PDZ motif containing-protein myopathy]
Zaspopathy
Certain specified myofibrillar myopathy
Selcen muscular dystrophy

Excludes

http://id.who.int/icd/entity/1159616108 – Secondary myopathies
http://id.who.int/icd/entity/1425591047 – Myasthenia gravis or certain specified neuromuscular junction disorders

Exclusions from above levels

http://id.who.int/icd/entity/155258022 – Metabolic disorders
LD26.41 – Arthrogryposis multiplex congenita
05 – Endocrine, nutritional or metabolic diseases

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18 – Complications of pregnancy, childbirth and the puerperium
19 – Certain conditions originating in the perinatal period
22 – Injury, poisoning or certain other consequences of external causes

Sibling codes

8C70 – Muscular dystrophy
8C71 – Myotonic disorders
8C72 – Congenital myopathies
8C73 – Mitochondrial myopathies
8C74 – Periodic paralyses or disorders of muscle membrane excitability
8C75 – Distal myopathies
8C77 – Ocular myopathy
8C78 – Malignant hyperthermia or hyperpyrexia
8C7Y – Other specified primary disorders of muscles
8C7Z – Primary disorders of muscles, unspecified

Foundation entity

Myofibrillar myopathy – http://id.who.int/icd/entity/125656853

Part of: 08: Diseases of the nervous system