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Genetic and Rare Diseases Information Center (GARD)

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Allan-Herndon-Dudley syndrome


Other Names for this Disease

  • AHDS
  • Allan-Herndon syndrome
  • Mental retardation and muscular atrophy
  • Monocarboxylate transporter-8 deficiency
  • T3 resisitence
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

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What are the symptoms of Allan-Herndon-Dudley syndrome?

Allan-Herndon-Dudley syndrome causes moderate to severe intellectual disability and problems with movement. They also have impaired speech and a limited ability to communicate. Most children with this condition have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they often develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.[1] 
Last updated: 6/12/2014

The Human Phenotype Ontology provides the following list of signs and symptoms for Allan-Herndon-Dudley syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of the neck 90%
Amyotrophy 90%
Cheekbone underdevelopment 90%
Cognitive impairment 90%
Hyperreflexia 90%
Incoordination 90%
Narrow face 90%
Narrow forehead 90%
Neurological speech impairment 90%
Upslanted palpebral fissure 90%
Gait disturbance 50%
Limitation of joint mobility 50%
Macrotia 50%
Open mouth 50%
Single transverse palmar crease 50%
Camptodactyly of finger 7.5%
Cerebral calcification 7.5%
Proptosis 7.5%
Ptosis 7.5%
Scoliosis 7.5%
Type I diabetes mellitus 7.5%
Rotary nystagmus 5%
Abnormal conjugate eye movement -
Abnormality of the pinna -
Abnormality of the rib cage -
Ataxia -
Babinski sign -
Clonus -
Congenital onset -
Delayed CNS myelination -
Drooling -
Dysarthria -
Feeding difficulties in infancy -
Flexion contracture -
Generalized amyotrophy -
Hallux valgus -
Hypothyroidism -
Inability to walk -
Intellectual disability, progressive -
Intellectual disability, severe -
Involuntary writhing movements -
Irritability -
Leukodystrophy -
Neonatal hypotonia -
Pectus excavatum -
Pes planus -
Prominent antihelix -
Severe global developmental delay -
Spastic paraplegia -
Spastic tetraplegia -
Stahl ear -
Thyroid-stimulating hormone excess -
X-linked dominant inheritance -

Last updated: 11/3/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Allan-Herndon-Dudley syndrome. Genetics Home Reference (GHR). April 2013; http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome. Accessed 6/12/2014.


Other Names for this Disease
  • AHDS
  • Allan-Herndon syndrome
  • Mental retardation and muscular atrophy
  • Monocarboxylate transporter-8 deficiency
  • T3 resisitence
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.