U.S. flag

An official website of the United States government


Send to:

Choose Destination

Scapuloperoneal weakness

MedGen UID:
Concept ID:
Synonym: Neurogenic scapuloperoneal syndrome
HPO: HP:0003704

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Scapuloperoneal weakness

Conditions with this feature

Myosin storage myopathy
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal dominant myosin storage congenital myopathy-7A (CMYP7A) is a skeletal muscle disorder with wide phenotypic variability. The age at symptom onset can range from early childhood to late adulthood. Affected individuals have proximal muscle weakness affecting the upper and lower limbs and distal muscle weakness of the lower limbs, resulting in gait difficulties and scapular winging (scapuloperoneal myopathy). Additional features may include thin habitus, high-arched palate, foot drop, pes cavus, calf pseudohypertrophy, and decreased reflexes. The severity is also variable: some patients develop respiratory insufficiency, joint contractures, and scoliosis in the first decades, whereas others are clinically unaffected, but show subtle signs of the disorder on examination. Serum creatine kinase may be normal or elevated. The disease is usually slowly progressive and most patients remain ambulatory. Skeletal muscle biopsy can show different abnormalities, including hyaline bodies, type 1 fiber predominance, congenital fiber-type disproportion (CFTD), and nonspecific myopathic changes with myofibrillar disarray. Intrafamilial variability is common (Dye et al., 2006; Pegoraro et al., 2007; review by Tajsharghi and Oldfors, 2013). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Myopathy, myosin storage, autosomal recessive
MedGen UID:
Concept ID:
Disease or Syndrome
Autosomal recessive myosin storage congenital myopathy-7B (CMYP7B) is a skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable, even within families. Most patients develop respiratory insufficiency, nocturnal hypoventilation, and restrictive lung disease; some develop hypertrophic cardiomyopathy. Additional features include myopathic facies, high-arched palate, scoliosis, and muscle wasting with thin body habitus. Serum creatine kinase may be normal or elevated. Skeletal muscle biopsy shows variable findings, including myosin storage disease, type 1 fiber predominance, centralized nuclei, and multiminicore disease (Onengut et al., 2004; Tajsharghi et al., 2007; Beecroft et al., 2019). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).
Neurogenic scapuloperoneal syndrome, Kaeser type
MedGen UID:
Concept ID:
Disease or Syndrome
A rare genetic neuromuscular disease with characteristics of adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynaecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings. Caused by heterozygous mutation in the DES gene on chromosome 2q35.
X-linked myopathy with postural muscle atrophy
MedGen UID:
Concept ID:
Disease or Syndrome
Emery-Dreifuss muscular dystrophy (EDMD) is characterized by the clinical triad of: joint contractures that begin in early childhood; slowly progressive muscle weakness and wasting initially in a humero-peroneal distribution that later extends to the scapular and pelvic girdle muscles; and cardiac involvement that may manifest as palpitations, presyncope and syncope, poor exercise tolerance, and congestive heart failure along with variable cardiac rhythm disturbances. Age of onset, severity, and progression of muscle and cardiac involvement demonstrate both inter- and intrafamilial variability. Clinical variability ranges from early onset with severe presentation in childhood to late onset with slow progression in adulthood. In general, joint contractures appear during the first two decades, followed by muscle weakness and wasting. Cardiac involvement usually occurs after the second decade and respiratory function may be impaired in some individuals.

Professional guidelines


Milanov I, Ishpekova B
Electromyogr Clin Neurophysiol 1997 Mar;37(2):73-8. PMID: 9098670

Recent clinical studies


Park YE, Kim DS, Shin JH
Clin Neurol Neurosurg 2019 May;180:48-51. Epub 2019 Mar 19 doi: 10.1016/j.clineuro.2019.03.015. PMID: 30928807

Clinical prediction guides

Guo X, Zhao Z, Shen H, Qi B, Li N, Hu J
Muscle Nerve 2019 Mar;59(3):365-369. Epub 2019 Jan 18 doi: 10.1002/mus.26389. PMID: 30488450

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...