Rare diseases · Sign or symptom
Skeletal muscle atrophy
Muscle degeneration
HP:0003202
What it means
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Rare diseases that can present with this167
Very common80–99%
43- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- Atypical Werner syndrome
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Carey-Fineman-Ziter syndrome
- Carnitine palmitoyl transferase 1A deficiency
- Charcot-Marie-Tooth disease type 1F
- Combined oxidative phosphorylation defect type 7
- Deafness-vitiligo-achalasia syndrome
- Digital extensor muscle aplasia-polyneuropathy
- Duchenne muscular dystrophy
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Facial onset sensory and motor neuronopathy
- Facioscapulohumeral dystrophy
- Gemignani syndrome
- Hereditary sensory and autonomic neuropathy type 2
- Inclusion body myositis
- Infantile-onset X-linked spinal muscular atrophy
- Intellectual disability-myopathy-short stature-endocrine defect syndrome
- Juvenile amyotrophic lateral sclerosis
- Kennedy disease
- Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
- Legg-Calvé-Perthes disease
- Lethal congenital contracture syndrome type 1
- Marden-Walker syndrome
- Melorheostosis
- Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
- Mitochondrial myopathy-lactic acidosis-deafness syndrome
- Multiple pterygium-malignant hyperthermia syndrome
- Oculogastrointestinal muscular dystrophy
- Oxoglutaric aciduria
- Pelvic dysplasia-arthrogryposis of lower limbs syndrome
- Peripheral motor neuropathy-dysautonomia syndrome
- Pontocerebellar hypoplasia type 1
- Proximal myotonic myopathy
- Proximal spinal muscular atrophy
- Renpenning syndrome
- Severe X-linked mitochondrial encephalomyopathy
- Spinocerebellar ataxia type 3
- Tay-Sachs disease
- Triose phosphate-isomerase deficiency
- Walker-Warburg syndrome
- X-linked Charcot-Marie-Tooth disease type 4
- X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Common30–79%
37- Adult Krabbe disease
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult Refsum disease
- AIDS wasting syndrome
- Allan-Herndon-Dudley syndrome
- Amyotrophic lateral sclerosis
- Amyotrophic lateral sclerosis type 4
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-telangiectasia
- Autosomal dominant Charcot-Marie-Tooth disease type 2K
- Autosomal dominant spastic paraplegia type 6
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
- Autosomal recessive spastic paraplegia type 20
- Autosomal recessive spastic paraplegia type 26
- Autosomal recessive spastic paraplegia type 55
- Autosomal recessive spastic paraplegia type 63
- Autosomal recessive spastic paraplegia type 76
- B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
- Camurati-Engelmann disease
- Charcot-Marie-Tooth disease type 1A
- Charcot-Marie-Tooth disease type 1B
- Classical-like Ehlers-Danlos syndrome type 1
- Cleft palate-large ears-small head syndrome
- Cockayne syndrome
- Cockayne syndrome type 3
- COG8-CDG
- Congenital muscular dystrophy due to LMNA mutation
- Donohue syndrome
- Dysequilibrium syndrome
- Extensor tendons of finger anomalies
- Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
- Fatal infantile lactic acidosis with methylmalonic aciduria
- Flynn-Aird syndrome
- Glycogen storage disease due to muscle phosphofructokinase deficiency
- Hereditary ATTR amyloidosis
- Hereditary myopathy with early respiratory failure
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Amyotrophy · Amyotrophy involving the extremities · Muscle atrophy · Muscle atrophy, neurogenic · Muscle hypotrophy · Muscle wasting · Muscular atrophy · Neurogenic muscle atrophy
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.