Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents. [books.google.de]

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.es]

MalaCards based summary : Spastic Paraplegia 29, Autosomal Dominant, also known as spg29, is related to spastic paraplegia 29, and has symptoms including clonus, urgency of micturition and persistent vomiting. [malacards.org]

vomiting due to a hiatal or paraesophageal hernia. [orpha.net]

The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

Most common symptoms of SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Autosomal dominant inheritance Seizures Hearing impairment Sensorineural hearing impairment Vomiting More info about SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 SOURCES: GARD [mendelian.co]

MalaCards based summary : Spastic Paraplegia 29, Autosomal Dominant, also known as spg29, is related to spastic paraplegia 29, and has symptoms including clonus, urgency of micturition and persistent vomiting. [malacards.org]

Disease definition A complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting [orpha.net]

[…] type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting [rarediseases.info.nih.gov]

The clinical phenotype is one of complicated HSP with the spastic paraparesis being associated with bilateral cataracts, gastroesophageal reflux with persistent vomiting, and distal amyotrophy secondary to an apparent axonal motor neuropathy. [jnnp.bmj.com]

[…] kinesigenic choreoathetosis Ehlers-Danlos syndrome, vascular type Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly Corneal dystrophy and perceptive deafness Spondylocostal dysostosis Dandy-Walker complex Pontocerebellar hypoplasia type 6 Prognathism [checkrare.com]

[…] complex II deficiency Severe intellectual disability-progressive spastic diplegia syndrome Methylmalonic acidemia with homocystinuria type cblD Tetrasomy 21 Rutherfurd syndrome Fine-Lubinsky syndrome Teeth noneruption of with maxillary hypoplasia and genu [checkrare.com]

[…] hygroma Popliteal pterygium syndrome, Bartsocas-Papas type PACS1-related syndrome Ichthyosis, mental retardation, dwarfism and renal impairment Radial ray agenesis Spinal atrophy ophthalmoplegia pyramidal syndrome Metaphyseal chondrodysplasia Spahr type Piebaldism [checkrare.com]

Most common symptoms of SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 Autosomal dominant inheritance Seizures Hearing impairment Sensorineural hearing impairment Vomiting More info about SPASTIC PARAPLEGIA 29, AUTOSOMAL DOMINANT; SPG29 SOURCES: GARD [mendelian.co]

impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia. [orpha.net]

Showing of 25 80%-99% of people have these symptoms Babinski sign 0003487 Lower limb hyperreflexia Overactive lower leg reflex 0002395 30%-79% of people have these symptoms Hearing impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach [rarediseases.info.nih.gov]

[…] frequent (99-80%) HP:0001258 3 clonus 59 32 hallmark (90%) Very frequent (99-80%) HP:0002169 4 scissor gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0012407 5 tip-toe gait 59 32 hallmark (90%) Very frequent (99-80%) HP:0030051 6 sensorineural hearing [malacards.org]

Case 4 - - M a n aged 39 Principal clinical features: ichthyosis, palpebral ptosis, facial pains, neurosis. [slideheaven.com]

The only thing that differentiates this family from DYT2 families is onset during adolescence rather than childhood. Clinically, DYT17 is quite similar to DYT2 dystonia. [nanopdf.com]

urgency And 14 more phenotypes. [mendelian.co]

Medications such as oxybutynin may reduce urinary urgency. If urinary urgency is severe or accompanied by difficulty initiating urination, consultation with a urologist is recommended. [rarediseases.org]

urgency Overactive bladder 0000012 Vomiting Throwing up 0002013 Showing of 25 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. [rarediseases.info.nih.gov]

Treatment for HSP is presently limited to symptomatic reduction of muscle spasticity, reduction in urinary urgency, and strength and gait improvement through physical therapy. [link.springer.com]

[…] inheritance Very Common - Between 80% and 100% cases Impaired vibratory sensation Very Common - Between 80% and 100% cases Urinary hesitancy Very Common - Between 80% and 100% cases Abnormality of the rectum Very Common - Between 80% and 100% cases Nocturia [mendelian.co]

0010831 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Genetic anticipation 0003743 Hyperactivity More active than typical 0000752 Neonatal hyperbilirubinemia 0003265 Nocturia [rarediseases.info.nih.gov]

Top 5 symptoms associated to SPG29 gene Symptoms // Phenotype % Cases Autosomal dominant inheritance Very Common - Between 80% and 100% cases Impaired vibratory sensation Very Common - Between 80% and 100% cases Urinary hesitancy Very Common - Between [mendelian.co]

hesitancy Difficulty with flow 0000019 Urinary incontinence Loss of bladder control 0000020 Urinary urgency Overactive bladder 0000012 Vomiting Throwing up 0002013 Showing of 25 Last updated: 5/1/2019 If you need medical advice, you can look for doctors [rarediseases.info.nih.gov]

[…] in upper limbs Not very common - Between 30% and 50% cases Upper limb spasticity Commonly - More than 50% cases Impaired proprioception Not very common - Between 30% and 50% cases Hiatus hernia Commonly - More than 50% cases Lower limb hyperreflexia [mendelian.co]

Related phenotypes are lower limb hyperreflexia and babinski sign [malacards.org]

[…] hernia 0002036 Hyperbilirubinemia High blood bilirubin levels 0002904 Pes cavus High-arched foot 0001761 5%-29% of people have these symptoms Abnormality of the lower urinary tract 0010936 Clonus 0002169 Hyperreflexia in upper limbs 0007350 Impaired [rarediseases.info.nih.gov]

Related phenotypes are lower limb hyperreflexia and babinski sign [malacards.org]

Showing of 25 80%-99% of people have these symptoms Babinski sign 0003487 Lower limb hyperreflexia Overactive lower leg reflex 0002395 30%-79% of people have these symptoms Hearing impairment Deafness Hearing defect [ more ] 0000365 Hiatus hernia Stomach [rarediseases.info.nih.gov]

extremity spasticity and weakness. [flybase.org]

All forms of HSP, complicated and uncomplicated, share the primary symptom of lower-extremity spastic weakness. [invitae.com]

The following individuals are candidates for spastic paraplegia-related gene testing: Individuals with a family history of hereditary spastic paraplegia and presentation of lower extremity spasticity and weakness and other common symptoms Individuals [centogene.com]

Diagnosis HSP is diagnosed by the following: 1) typical symptoms (lower extremity spastic weakness that may be non-worsening (early childhood onset) or slowly progressive over many years; 2) findings on neurologic examination (lower extremity hyperreflexia [rarediseases.org]

Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. Probasco, Johns Hopkins University [books.google.de]

manifestations. 5, 6, 7 The majority of HSP genes are associated with very rare or even unique clinical forms. [doi.org]

Roos, Indiana University - Sleep Disturbances-Mark Dyken, University of Iowa - Substance Abuse and Toxicology Disorders-Barry E. Kosofsky, Weill-Cornell University Medical Center - Neurologic Manifestations of Medical Disorders-John C. [books.google.de]

The patient complained of sleep disturbances only. His parents are nonconsanguineous and he has no siblings. The family history was negative for congenital malformations, dysmorphic features, and neurological and behavioural disturbances. [omicsonline.org]