Rare diseases · Sign or symptom
Diminished deep tendon reflex
HP:0001315
What it means
A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon.
The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect.
Rare diseases that can present with this77
Very common80–99%
23- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- Ataxia-photosensitivity-short stature syndrome
- Autosomal dominant Charcot-Marie-Tooth disease type 2F
- Autosomal dominant Charcot-Marie-Tooth disease type 2Z
- Autosomal dominant Emery-Dreifuss muscular dystrophy
- Autosomal recessive frontotemporal pachygyria
- Carnitine palmitoyl transferase 1A deficiency
- Emery-Dreifuss muscular dystrophy
- Grubben-de Cock-Borghgraef syndrome
- Hyperkalemic periodic paralysis
- Hypomyelination neuropathy-arthrogryposis syndrome
- Infantile-onset spinocerebellar ataxia
- Isolated glycerol kinase deficiency
- Isotretinoin syndrome
- Lambert-Eaton myasthenic syndrome
- Linear nevus sebaceus syndrome
- Maple syrup urine disease
- Mulibrey nanism
- Pallister-Killian syndrome
- Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
- Symmetrical thalamic calcifications
- X-linked Emery-Dreifuss muscular dystrophy
- Zellweger syndrome
Common30–79%
32- Adenylosuccinate synthetase-like 1-related distal myopathy
- Ataxia-deafness-intellectual disability syndrome
- Ataxia-telangiectasia-like disorder
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
- Cap myopathy
- Cartilage-hair hypoplasia
- Caudal regression syndrome
- Choreoacanthocytosis
- COFS syndrome
- Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
- Congenital fiber-type disproportion myopathy
- Dermatoleukodystrophy
- Dopamine beta-hydroxylase deficiency
- DPM3-CDG
- Genetic recurrent myoglobinuria
- Gerstmann-Straussler-Scheinker syndrome
- Griscelli syndrome
- Hypokalemic periodic paralysis
- Inclusion body myositis
- Kearns-Sayre syndrome
- Medium chain acyl-CoA dehydrogenase deficiency
- Multifocal motor neuropathy
- Multiple symmetric lipomatosis
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
- Paraneoplastic sensory ganglionopathy
- Postsynaptic congenital myasthenic syndrome
- Proximal spinal muscular atrophy
- Schaaf-Yang syndrome
- SIM1-related Prader-Willi-like syndrome
- TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
Sometimes5–29%
22- Aromatic L-amino acid decarboxylase deficiency
- Autosomal dominant Charcot-Marie-Tooth disease type 2Y
- Autosomal dominant optic atrophy and cataract
- Basel-Vanagaite-Smirin-Yosef syndrome
- Bickerstaff brainstem encephalitis
- Congenital muscular dystrophy with intellectual disability
- Dysferlin-related limb-girdle muscular dystrophy R2
- Hyperphosphatasia-intellectual disability syndrome
and 14 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: Absent or decreased deep tendon reflexes · Decreased deep tendon reflexes · Decreased tendon reflexes · Decreased to absent deep tendon reflexes · Decreased/absent deep tendon reflexes · Depressed tendon reflexes · Diminished deep tendon reflexes · Diminished or absent deep tendon reflexes
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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.