Rare diseases · Sign or symptom
Distal amyotrophy
Distal muscle wasting
HP:0003693
What it means
Muscular atrophy affecting muscles in the distal portions of the extremities.
Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution).
Rare diseases that can present with this49
Very common80–99%
9- Autosomal dominant congenital benign spinal muscular atrophy
- Autosomal recessive spastic paraplegia type 43
- Charcot-Marie-Tooth disease type 4A
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Infantile multisystem neurologic-endocrine-pancreatic disease
- Juvenile amyotrophic lateral sclerosis
- Richards-Rundle syndrome
- Spastic paraplegia-optic atrophy-neuropathy syndrome
- Wieacker-Wolff syndrome
Common30–79%
26- Amyotrophic lateral sclerosis
- Autosomal dominant Charcot-Marie-Tooth disease type 2E
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal recessive spastic paraplegia type 74
- Autosomal spastic paraplegia type 30
- Autosomal spastic paraplegia type 58
- Cerebrotendinous xanthomatosis
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 4C
- Charcot-Marie-Tooth disease type 4G
- Choreoacanthocytosis
- Combined oxidative phosphorylation defect type 7
- Distal hereditary motor neuropathy type 5
- Distal myotilinopathy
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Isolated succinate-CoQ reductase deficiency
- Madras motor neuron disease
- Mutilating hereditary sensory neuropathy with spastic paraplegia
- PMP22-RAI1 contiguous gene duplication syndrome
- Polyneuropathy associated with IgM monoclonal gammopathy
- Roussy-Lévy syndrome
- Spastic paraplegia-neuropathy-poikiloderma syndrome
- Spinocerebellar ataxia type 43
- Spinocerebellar ataxia with axonal neuropathy type 1
- X-linked Charcot-Marie-Tooth disease type 3
Sometimes5–29%
14- Autosomal dominant spastic paraplegia type 17
- Autosomal dominant spastic paraplegia type 4
- Autosomal recessive cerebellar ataxia due to STUB1 deficiency
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay
- Autosomal recessive spastic paraplegia type 11
- Autosomal recessive spastic paraplegia type 20
- Congenital myasthenic syndrome
and 6 more in this range
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. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Amyotrophy of distal limb muscles · Distal amyotrophy, especially of the hands and feet · Distal limb muscle atrophy · Distal muscle atrophy · Distal muscle atrophy, upper and lower limbs · Distal muscle degeneration · Distal muscular atrophy · Muscle atrophy, distal
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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.