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Miyoshi muscular dystrophy 3(MMD3)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Miyoshi myopathy 3; MMD3
SNOMED CT: Miyoshi muscular dystrophy type 3 (783166000); Distal anoctaminopathy (783166000); MMD3 - Miyoshi muscular dystrophy type 3 (783166000)
Gene (location): ANO5 (11p14.3)
Monarch Initiative: MONDO:0013222
OMIM®: 613319
Orphanet: ORPHA399096

Disease characteristics

Excerpted from the GeneReview: ANO5 Muscle Disease
The spectrum of ANO5 muscle disease is a continuum that ranges from asymptomatic hyperCKemia and exercise-induced myalgia to proximal and/or distal muscle weakness. The most typical presentation is limb-girdle muscular dystrophy type 2L (LGMD2L) with late-onset proximal lower-limb weakness in the fourth or fifth decade (range 15-70 years). Less common is Miyoshi-like disease (Miyoshi muscular dystrophy 3) with early-adult-onset calf distal myopathy (around age 20 years). Incidental hyperCKemia may be present even earlier. Initial symptoms are walking difficulties, reduced sports performance, and difficulties in standing on toes as well as nonspecific exercise myalgia and/or burning sensation in the calf muscles. Muscle weakness and atrophy are frequently asymmetric. Cardiac findings can include cardiomyopathy and arrhythmias and/or left ventricular dysfunction. Bulbar or respiratory symptoms have not been reported. Females have milder disease manifestations than males. Disease progression is slow in both the LGMD and distal forms; ambulation is preserved until very late in the disease course. Life span is normal. [from GeneReviews]
Sini Penttilä  |  Anna Vihola  |  Johanna Palmio, et. al.   view full author information

Additional description

From MedlinePlus Genetics
Miyoshi myopathy is a muscle disorder that begins with weakness in the muscles that are located away from the center of the body (distal muscles), such as those in the legs. During early to mid-adulthood, affected individuals typically begin to experience muscle weakness and wasting (atrophy) in one or both calves. If only one leg is affected, the calves appear different in size (asymmetrical). Calf weakness can make it difficult to stand on tiptoe.

Rarely, abnormal heart rhythms (arrhythmias) have developed in people with Miyoshi myopathy. Individuals with Miyoshi myopathy have highly elevated levels of an enzyme called creatine kinase (CK) in their blood, which often indicates muscle disease.

As Miyoshi myopathy slowly worsens, the muscle weakness and atrophy spread up the leg to the muscles in the thigh and buttock and can also involve the upper arm and shoulder muscles. Eventually, affected individuals may have difficulty climbing stairs or walking for an extended period of time. Some people with Miyoshi myopathy may eventually need wheelchair assistance.  https://medlineplus.gov/genetics/condition/miyoshi-myopathy

Clinical features

From HPO
Distal lower limb muscle weakness
MedGen UID:
Concept ID:
Reduced strength of the distal musculature of the legs.
Distal upper limb muscle weakness
MedGen UID:
Concept ID:
Reduced strength of the distal musculature of the arms.
Muscular dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Difficulty climbing stairs
MedGen UID:
Concept ID:
Reduced ability to climb stairs.
Difficulty running
MedGen UID:
Concept ID:
Reduced ability to run.
Quadriceps muscle weakness
MedGen UID:
Concept ID:
Sign or Symptom
Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris).
Calf muscle hypertrophy
MedGen UID:
Concept ID:
Muscle hypertrophy affecting the calf muscles.
Quadriceps muscle atrophy
MedGen UID:
Concept ID:
Pathologic Function
Muscular atrophy involving the quadriceps muscle.
Elevated circulating creatine kinase concentration
MedGen UID:
Concept ID:
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMiyoshi muscular dystrophy 3
Follow this link to review classifications for Miyoshi muscular dystrophy 3 in Orphanet.

Recent clinical studies


Griffin DA, Johnson RW, Whitlock JM, Pozsgai ER, Heller KN, Grose WE, Arnold WD, Sahenk Z, Hartzell HC, Rodino-Klapac LR
Hum Mol Genet 2016 May 15;25(10):1900-1911. Epub 2016 Feb 23 doi: 10.1093/hmg/ddw063. PMID: 26911675Free PMC Article
van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB
Neuromuscul Disord 2013 Jun;23(6):456-60. Epub 2013 Apr 19 doi: 10.1016/j.nmd.2013.03.012. PMID: 23607914


van der Kooi AJ, Ten Dam L, Frankhuizen WS, Straathof CS, van Doorn PA, de Visser M, Ginjaar IB
Neuromuscul Disord 2013 Jun;23(6):456-60. Epub 2013 Apr 19 doi: 10.1016/j.nmd.2013.03.012. PMID: 23607914

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