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Disease Profile

Amyotrophy, neurogenic scapuloperoneal, New England type

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

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US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

G12.1

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Scapuloperoneal spinal muscular atrophy; SPSMA

Categories

Musculoskeletal Diseases

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Distal sensory impairment
Decreased sensation in extremities
0002936
Percent of people who have these symptoms is not available through HPO
Abducens palsy
0011349
Amyoplasia
Absent muscles since birth
0003634
Areflexia
Absent tendon reflexes
0001284
Autosomal dominant inheritance
0000006
Broad-based gait
Wide based walk
0002136
Clinodactyly
Permanent curving of the finger
0030084
Diaphragmatic weakness
Weak diaphragm
0009113
Facial palsy
Bell's palsy
0010628
Gowers sign
0003391
Hip dysplasia
0001385
Hoarse voice
Hoarseness
Husky voice

[ more ]

0001609
Hyperlordosis
Prominent swayback
0003307
Hyporeflexia
Decreased reflex response
Decreased reflexes

[ more ]

0001265
Incomplete penetrance
0003829
Kyphosis
Hunched back
Round back

[ more ]

0002808
Metatarsus adductus
Front half of foot turns inward
0001840
Motor delay
0001270
Motor polyneuropathy
0007178
Muscle fiber splitting
0003555
Peroneal muscle atrophy
0009049
Peroneal muscle weakness
0011727
Progressive distal muscle weakness
0009063
Progressive distal muscular atrophy
0008955
Respiratory insufficiency
Respiratory impairment
0002093
Scapular muscle atrophy
0009060
Scapular winging
Winged shoulder blade
0003691
Scapuloperoneal amyotrophy
0003697
Scoliosis
0002650
Small hand
Disproportionately small hands
0200055
Stridor
0010307
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Torticollis
Wry neck
0000473

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Amyotrophy, neurogenic scapuloperoneal, New England type. Click on the link to view a sample search on this topic.