Dysarthria, and Delayed puberty

Diseases related with Dysarthria and Delayed puberty

In the following list you will find some of the most common rare diseases related to Dysarthria and Delayed puberty that can help you solving undiagnosed cases.

Top matches:

Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME

Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Is also known as spg64

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39 ) (summary by Synofzik et al., 2014).See also Gordon Holmes syndrome (GDHS ), caused by mutation in the RNF216 gene (OMIM ), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism.

BOUCHER-NEUHAUSER SYNDROME; BNHS Is also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Visual impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about BOUCHER-NEUHAUSER SYNDROME; BNHS

Other less relevant matches:

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood. Some patients with PEX10 mutations have a milder disorder characterized by childhood-onset cerebellar ataxia and neuropathy without mental retardation (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX10 gene have cells of complementation group 7 (CG7, equivalent to CGB). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 6B; PBD6B

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Medium match PERRAULT SYNDROME

Perrault syndrome (PS) is characterized by the association of ovarian dysgenesis in females with sensorineural hearing impairment. In more recent PS reports, some authors have described neurologic abnormalities, notably progressive cerebellar ataxia and intellectual deficit.

PERRAULT SYNDROME Is also known as ovarian dysgenesis with sensorineural deafness|gonadal dysgenesis, xx type, with deafness|xx gonodal dysgenesis-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERRAULT SYNDROME

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Medium match KALLMANN SYNDROME

Kallmann syndrome (KS) is a developmental genetic disorder characterized by the association of congenital hypogonadotropic hypogonadism (CHH) due to gonadotropin-releasing hormone (GnRH) deficiency, and anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs).

KALLMANN SYNDROME Is also known as congenital hypogonadotropic hypogonadism with anosmia|olfacto-genital pathological sequence

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about KALLMANN SYNDROME

Medium match WOLFRAM SYNDROME

Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2).

WOLFRAM SYNDROME Is also known as didmoad syndrome|diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about WOLFRAM SYNDROME

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Dysarthria and Delayed puberty

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Delayed puberty. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Gait ataxia

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Areflexia Seizures Hearing impairment Hypogonadotrophic hypogonadism Hypogonadism Cognitive impairment Short stature Global developmental delay Dysmetria Progressive cerebellar ataxia Intention tremor Unsteady gait Hypoplasia of the corpus callosum Gait disturbance Hyporeflexia Primary amenorrhea Babinski sign Visual impairment Infertility Cerebellar hypoplasia Paraplegia Distal amyotrophy Postural tremor Peripheral axonal neuropathy Dysphagia Ophthalmoplegia Optic atrophy Cerebral cortical atrophy Pes cavus Limb ataxia Hyperreflexia Motor delay

Rare Symptoms - Less than 30% cases

Dystonia Myopia Ptosis Developmental regression Delayed eruption of teeth Hypodontia Leukodystrophy Drooling Oligodontia CNS hypomyelination Abnormal facial shape Mental deterioration Sensory neuropathy Retinal atrophy Glaucoma Diabetes mellitus Reduced number of teeth Delayed menarche Intellectual disability, mild Talipes equinovarus Spastic paraplegia Dysdiadochokinesis Retinal dystrophy Amenorrhea Abnormal upper motor neuron morphology Abnormality of the cerebral white matter Skeletal muscle atrophy Abnormality of the nervous system Hallucinations Polydipsia Dementia Diabetes insipidus Parietal cortical atrophy Feeding difficulties in infancy Joint stiffness Malabsorption Recurrent urinary tract infections Nephropathy Old-aged sensorineural hearing impairment Abnormality of the urinary system Abnormal autonomic nervous system physiology Gastrointestinal hemorrhage Abnormal involuntary eye movements Sleep disturbance Gaze-evoked nystagmus Constipation Anterior hypopituitarism Hypoplasia of penis Gynecomastia Reduced bone mineral density Anosmia Abnormality of the voice Abnormality of color vision Decreased fertility Hyposmia Abnormality of female internal genitalia Behavioral abnormality Breast hypoplasia Bimanual synkinesia Dyspareunia Erectile abnormalities Hypothalamic gonadotropin-releasing hormone deficiency Abnormality of the sella turcica Anemia Respiratory insufficiency Cardiomyopathy Myopathy Male hypogonadism Dysuria Uveitis Head tremor Hypoplasia of the pons Horizontal nystagmus Progeroid facial appearance Oligomenorrhea Renal agenesis Hand tremor Hyperactive deep tendon reflexes Corpus callosum atrophy Colitis Type I diabetes mellitus Ankle clonus Oculomotor apraxia Pancreatitis External ophthalmoplegia Adducted thumb Sensory axonal neuropathy Truncal ataxia Ulcerative colitis Iridocyclitis Hypothyroidism Central apnea Gastric ulcer Abnormality of mesentery morphology Saccadic smooth pursuit Hypertonia Alopecia Myoclonus Difficulty walking Impaired proprioception Rigidity Neurological speech impairment Arachnodactyly Postural instability Memory impairment Type II diabetes mellitus Lower limb spasticity Speech apraxia Decreased testicular size Gonadal dysgenesis Recurrent fractures Impaired vibration sensation in the lower limbs Sensory impairment Decreased liver function Impaired smooth pursuit Dysmetric saccades Focal white matter lesions Deeply set eye Clumsiness Spastic dysarthria Abnormality of the liver Upper motor neuron dysfunction Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception Focal seizures, afebril Distal sensory impairment Elevated hepatic transaminase Scoliosis Intellectual disability, borderline Vertigo Action tremor Loss of ability to walk Microcephaly Aggressive behavior Intellectual disability, moderate Congenital cataract Abnormality of metabolism/homeostasis Neonatal hypotonia Visual loss Photophobia Progressive visual loss Chorioretinal atrophy Scanning speech Chorioretinal dystrophy Spinocerebellar atrophy Generalized hypotonia High myoinositol in brain by MRS High palate Ichthyosis Muscle weakness Peripheral demyelination High myopia Focal impaired awareness seizure Natal tooth Motor deterioration Foam cells Hypometric saccades Muscular hypotonia Abnormal cerebellum morphology Cleft palate Cryptorchidism Abnormality of cardiovascular system morphology Obesity Delayed skeletal maturation Micropenis Skeletal dysplasia Pes planus Focal-onset seizure Abnormal pyramidal sign Short neck Secondary amenorrhea Rod-cone dystrophy Osteoporosis Polyneuropathy Sensorimotor neuropathy Hyperkinesis Bilateral ptosis Hammertoe Spastic diplegia Severe sensorineural hearing impairment Abnormality of the dentition Increased circulating gonadotropin level Amelogenesis imperfecta Decreased serum testosterone level Titubation Progressive peripheral neuropathy Limited extraocular movements Internuclear ophthalmoplegia Ventriculomegaly Abnormal motor evoked potentials


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Myopia and Diabetes mellitus, related diseases and genetic alterations