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Hereditary Myopathy with Early Respiratory Failure (DOID:9000689)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1)
Parent Terms Term With Siblings Child Terms
distal myopathy +     
adult respiratory distress syndrome  
Airway Obstruction +   
amyotrophic lateral sclerosis type 21  
asphyxiating thoracic dystrophy 4  
asphyxiating thoracic dystrophy 5  
Circumvallate Placenta Syndrome 
distal myopathy 1  
Distal Myopathy 3 
Distal Myopathy, Tateyama Type  
fatal infantile hypertonic myofibrillar myopathy  
hantavirus pulmonary syndrome 
Hereditary Myopathy with Early Respiratory Failure  
Myofibrillar myopathy-9 with early respiratory failure (MFM9) is an autosomal dominant muscle disorder characterized by adult onset of slowly progressive muscle weakness with diaphragmatic involvement causing respiratory insufficiency. Patients present between 20 and 70 years of age with distal or proximal muscle weakness, mainly affecting the lower limbs with foot drop or difficulty walking. The age at onset is highly variable, even within families. Nearly all patients eventually develop significant proximal and distal weakness, as well as respiratory insufficiency requiring nocturnal ventilation. Additional, more variable features may include axial weakness, neck muscle weakness, and rarely, cardiac involvement. Muscle biopsy shows myopathic or dystrophic changes with fiber splitting, eosinophilic cytoplasmic inclusions consistent with myofibrillar myopathy, rimmed vacuoles, and increased connective or fatty tissue. MFM9 is caused by heterozygous mutation in the protein kinase domain of titin (TTN) on chromosome 2q31. (OMIM)
Hypoventilation +   
Infantile Apparent Life-Threatening Event 
infantile-onset distal myopathy 
Jankovic Rivera Syndrome  
Laryngeal Granuloma 
Miyoshi muscular dystrophy +   
myofibrillar myopathy 1  
myofibrillar myopathy 2  
myofibrillar myopathy 3  
myofibrillar myopathy 4  
myofibrillar myopathy 5  
myofibrillar myopathy 6  
myofibrillar myopathy 7  
myofibrillar myopathy 8  
Myopathy, Distal, 4  
Myopathy, Distal, 5  
Myopathy, Distal, with Anterior Tibial Onset  
neonatal respiratory failure 
newborn respiratory distress syndrome +   
Nonaka Myopathy  
Positive-Pressure Respiration, Intrinsic 
pulmonary edema +   
Respiratory Acidosis 
Respiratory Paralysis 
Respiratory Underresponsiveness to Hypoxia and Hypercapnia 
spheroid body myopathy  
Tauopathy and Respiratory Failure 
Thompson Baraitser Syndrome 
tibial muscular dystrophy  
Welander Distal Myopathy, Swedish Type  

Exact Synonyms: Edstrom Myopathy ;   HMERF ;   Hereditary Myopathy with Early Respiratory Failure ;   MFM9 ;   MPRM ;   Myofibrillar Myopathy 9 with Early Respiratory Failure ;   distal myopathy with early respiratory failure, autosomal dominant ;   proximal myopathy with early respiratory muscle involvement
Primary IDs: MESH:C564377 ;   MESH:C566343
Alternate IDs: OMIM:603689 ;   RDO:0013364 ;   RDO:0014722

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.