Rare diseases · Sign or symptom
Proximal lower limb muscle weakness
HP:0008994
What it means
A lack of strength of the proximal muscles of the legs.
Rare diseases that can present with this36
Very common80–99%
6Common30–79%
20- Adenylosuccinate synthetase-like 1-related distal myopathy
- Autosomal dominant centronuclear myopathy
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal recessive Emery-Dreifuss muscular dystrophy
- Charcot-Marie-Tooth disease type 2B1
- Charcot-Marie-Tooth disease type 4B2
- Dysferlin-related limb-girdle muscular dystrophy R2
- Emery-Dreifuss muscular dystrophy
- Hereditary coproporphyria
- Immune-mediated necrotizing myopathy
- ISPD-related limb-girdle muscular dystrophy R20
- LIPE-related familial partial lipodystrophy
- Lower motor neuron syndrome with late-adult onset
- Miyoshi myopathy
- Multiminicore myopathy
- Polyendocrine-polyneuropathy syndrome
- POMGNT2-related limb-girdle muscular dystrophy R24
- Sandhoff disease, adult form
- X-linked Emery-Dreifuss muscular dystrophy
Sometimes5–29%
10- Acute intermittent porphyria
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Charcot-Marie-Tooth disease type 1F
- FLNC-related handgrip and calf weakness-distal myopathy
- Laing distal myopathy
- Multiple congenital anomalies-hypotonia-seizures syndrome
- Short stature-delayed bone age due to thyroid hormone metabolism deficiency
and 2 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: Muscle weakness, proximal, lower limbs · Proximal muscle weakness in lower limbs
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
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.