4 free views remaining today
Kennedy's disease
ICD-10 Codes
Related ICD-10:
Description
Kennedy's Disease: A Rare Neuro-Muscular Disorder
Kennedy's disease, also known as Spinal Bulbar Muscular Atrophy (SBMA), is a rare and gradually progressive neuromuscular disorder that affects the motor neurons in the spinal cord and brain. The disease is characterized by symptoms such as:
- Muscle weakness and cramps in the arms, legs, and facial area [1]
- Fasciculations of the tongue [1]
- Wasting of the proximal muscles (those closer to the trunk) [3]
- Bulbar muscle wasting [2]
The disease is inherited in an X-linked recessive pattern, meaning it primarily affects males. It is caused by a genetic mutation that leads to the degeneration of both motor and sensory neurons [6].
Symptoms of Kennedy's disease can include:
- Twitching of small muscles without purposeful movement
- Cramps
- Large muscle spasms
- Postural tremor [8]
The disease is rare, but it is essential for individuals who may be at risk to be aware of its symptoms and characteristics. If you or someone you know is experiencing these symptoms, consult a medical professional for proper diagnosis and treatment.
References: [1] - Search result 1 [2] - Search result 2 [3] - Search result 3 [4] - Search result 4 [5] - Search result 5 [6] - Search result 6 [7] - Search result 7 [8] - Search result 8
Additional Characteristics
- Cramps
- Postural tremor
- Muscle weakness and cramps in the arms, legs, and facial area
- Fasciculations of the tongue
- Wasting of the proximal muscles (those closer to the trunk)
- Bulbar muscle wasting
- Twitching of small muscles without purposeful movement
- Large muscle spasms
Signs and Symptoms
Kennedy's Disease: A Rare Motor Neuron Disorder
Kennedy's disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), is a rare inherited motor neuron disorder that affects males. The symptoms of this condition can vary in severity and progression, but here are some common signs and symptoms:
- Muscle Weakness and Wasting: Muscle weakness and wasting are the most common symptoms of Kennedy's disease. This can affect any muscle group, including the arms, legs, facial muscles, and bulbar muscles (which control breathing, swallowing, and speaking).
- **Swallow
Additional Symptoms
- Muscle Weakness and Wasting
- Swallowing Difficulty
- Speech Impairment
- Facial Muscle Weakness
- breathing problems
Diagnostic Tests
Diagnostic Tests for Kennedy's Disease
Kennedy's disease, also known as Spinal and Bulbar Muscular Atrophy (SBMA), can be diagnosed through various tests. Here are some of the diagnostic tests used to confirm the presence of this rare neuromuscular disorder:
- Genetic Testing: A blood sample is taken to test for CAG trinucleotide repeat expansion in the AR gene, which confirms the diagnosis of Kennedy's disease [3][7].
- Molecular Genetic Testing: This test involves a combination of two complementary analyses: repeat-primed PCR assay and fluorescent fragment-length assay [8]. It detects CAG triplet repeat expansion in the androgen receptor gene.
- DNA Blood Test: A DNA blood test can determine if Kennedy's disease is the correct diagnosis, which is essential for ruling out other conditions like ALS (Lou Gehrig's Disease) [4].
Important Considerations
It's crucial to note that a diagnosis of Kennedy's disease should be made by a qualified healthcare professional after considering physical signs and symptoms, family history, and results from various tests. Misdiagnosis can occur if not properly evaluated.
References:
[1] Context result 2 [3] Context result 5 [4] Context result 4 [7] Context result 7 [8] Context result 8
Additional Diagnostic Tests
- Genetic Testing
- Molecular Genetic Testing
- DNA Blood Test
Treatment
Current Status of Drug Treatment for Kennedy's Disease
Kennedy's disease, also known as Spinobulbar Muscular Atrophy (SBMA), is a rare genetic disorder that affects the nervous system and muscles. While there is no proven effective treatment available, researchers have been exploring various options to manage the symptoms.
- Symptomatic Support: Treatment for Kennedy's disease is primarily symptomatic and supportive, focusing on managing muscle weakness and atrophy ([2], [6]). Physical therapy and rehabilitation may help slow down these effects.
- Leuprorelin Acetate: A phase 2 clinical trial using leuprorelin acetate showed promising results in treating SBMA patients ([7]). However, more research is needed to confirm its effectiveness.
- Selective Androgen Receptor Modulators (SARMs): Researchers have developed a small molecule SARM for the treatment of SBMA. This innovation holds promise for future studies ([8]).
- Orphan Drug Status: AJ201 has been granted orphan drug status by the FDA and EMA for the treatment of Kennedy's disease ([5]). While this indicates potential interest in developing treatments, it does not guarantee availability or effectiveness.
Current Limitations
Despite these developments, there is still no proven effective treatment available for Kennedy's disease. The effects of exercise on the condition are uncertain, making physiotherapy and rehabilitation a primary focus ([4]).
Future Directions
Further research is necessary to explore potential treatments and improve management strategies for Kennedy's disease. Investigating new therapeutic approaches, such as SARMs and other small molecules, may lead to more effective treatments in the future.
References:
[1] Not applicable (initial statement) [2] Aug 8, 2023 — Treatment is symptomatic and supportive and life expectancy is normal, though a small percentage of patients (~10%) succumb to the disease in ... [4] There is no proven treatment for Kennedy's Disease and the effects of exercise is still uncertain, so the aim in Physiotherapy is to help manage the current ... [5] AJ201 has been granted orphan drug status by the FDA and EMA for the treatment of Kennedy's Disease. ... Nido Biosciences, a Boston-based company specializing in ... [6] Treatment is symptomatic and supportive. Physical therapy and rehabilitation to slow muscle weakness and atrophy may prove helpful. Prognosis. Kennedy's disease ... [7] by FJ Arnold · 2019 · Cited by 43 — Treatment of SBMA patients with leuprorelin acetate yielded promising results in a phase 2 clinical trial in which 48 weeks of randomized, placebo-controlled ... [8] Researchers at St. Jude have invented a small molecule, selective androgen receptor modulator (SARM) for the treatment of spinobulbar muscular atrophy (SBMA) [9] by PF Pradat · 2020 · Cited by 54 — In the absence of effective disease modifying therapies, the mainstay of management is symptomatic support using rehabilitation strategies (
Recommended Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnoses for Kennedy's Disease
Kennedy's disease, also known as spinal bulbar muscular atrophy (SBMA), is a rare inherited neuromuscular disorder that can be challenging to diagnose due to its similarities with other conditions. Here are some differential diagnoses to consider:
- Hereditary Spastic Paraplegia: This condition affects the nervous system and causes progressive weakness and stiffness in the legs.
- Spinocerebellar Ataxia: A group of genetic disorders that affect coordination, balance, and speech.
- Other Motor Neuron Diseases: Such as amyotrophic lateral sclerosis (ALS) and progressive muscular atrophy.
- Myopathies: Conditions that affect the muscles, such as mitochondrial myopathy and cytoplasmic-body myopathy.
- Neuropathies: Disorders that affect the nerves, including poliomyelitis and adrenoleucodystrophy.
According to [source 2], differential diagnoses for Kennedy's disease include ALS, spinal muscular atrophy with adult onset, adrenoleucodystrophy, hexosaminidase A deficiency, and poliomyelitis. Additionally, [source 3] mentions cervical spondylosis and cytoplasmic-body myopathy as possible differential diagnoses.
It is essential to note that a comprehensive diagnosis of Kennedy's disease requires a thorough medical evaluation, including a detailed patient history, physical examination, and laboratory tests. A correct diagnosis can be made by differentiating Kennedy's disease from these differential diagnoses through clinical presentation, genetic testing, and other diagnostic tools.
References:
- [2] - Differential Diagnosis
- [3] - Bulbar hereditary motor neuropathy affecting the lowest 6 cranial nerves (Fazio-Londe disease). Cervical spondylosis. Cytoplasmic-body myopathy.
- [8] - Kennedy disease (KD) is also known as spinal bulbar muscular dystrophy; it is a late-onset X-linked recessive hereditary nervous system degenerative disease.
Additional Differential Diagnoses
- amyotrophic lateral sclerosis type 2
- amyotrophic lateral sclerosis type 6
- amyotrophic lateral sclerosis type 7
- amyotrophic lateral sclerosis type 9
- amyotrophic lateral sclerosis type 11
- obsolete amyotrophic lateral sclerosis type 17
- amyotrophic lateral sclerosis type 20
- amyotrophic lateral sclerosis type 21
- amyotrophic lateral sclerosis type 22
- amyotrophic lateral sclerosis type 23
- amyotrophic lateral sclerosis type 24
- amyotrophic lateral sclerosis type 28
- Myopathies
- Neuropathies
- ALS
- spinal muscular atrophy with adult onset
- adrenoleucodystrophy
- hexosaminidase A deficiency
- cervical spondylosis
- spinocerebellar ataxia type 5
- hereditary spastic paraplegia
- myopathy
- poliomyelitis
- motor neuron disease
Additional Information
- core#notation
- DOID:0060161
- rdf-schema#label
- Kennedy's disease
- rdf-schema#subClassOf
- t336371
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1187
- owl#annotatedSource
- t336617
- 22-rdf-syntax-ns#first
- t4027302
- relatedICD
- http://example.org/icd10/M62.421
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- oboInOwl#creation_date
- 2011-08-29T01:31:03Z
- oboInOwl#id
- DOID:0060161
- oboInOwl#hasDbXref
- UMLS_CUI:C1839259
- IAO_0000115
- A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.
- oboInOwl#hasExactSynonym
- X-linked Spinal and Bulbar Muscular Atrophy
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000149
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.