Generalized hypotonia, and Joint stiffness

Diseases related with Generalized hypotonia and Joint stiffness

In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Joint stiffness that can help you solving undiagnosed cases.

Top matches:

Hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). HSAS is characterized by severe hydrocephalus mostly with prenatal onset, signs of intracranial hypertension, adducted thumbs, spasticity, and severe intellectual deficit. HSAS represents the severe end of the spectrum and is associated with poor prognosis.

HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS Is also known as x-linked hydrocephalus|hsas1|hycx|aqueductal stenosis, x-linked|bickers-adams syndrome|x-linked acqueductal stenosis|xlas|hydrocephalus, x-linked|x-linked hydrocephalus with stenosis of aqueduct of sylvius|x-linked hsas|hsas

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDROCEPHALUS WITH STENOSIS OF THE AQUEDUCT OF SYLVIUS

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Medium match BETHLEM MYOPATHY

Bethlem myopathy is a benign autosomal dominant form of slowly progressive muscular dystrophy.

BETHLEM MYOPATHY Is also known as ullrich scleroatonic muscular dystrophy|benign autosomal dominant myopathy|ullrich disease|ullrich congenital muscular dystrophy|muscular dystrophy, scleroatonic|ucmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BETHLEM MYOPATHY

Other less relevant matches:

EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

PELIZAEUS-MERZBACHER DISEASE; PMD Is also known as leukodystrophy, hypomyelinating, 1|hld1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER DISEASE; PMD

Medium match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

Medium match MICRO SYNDROME

Micro syndrome is an autosomal recessive disorder caracterised by ocular and neurodevelopmental defects and by microgenitalia. It presents with severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis/hypoplasia of the corpus callosum, and hypogenitalism.

MICRO SYNDROME Is also known as warbm|warburg micro syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICRO SYNDROME

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Joint stiffness

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Joint stiffness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Spasticity Short nose Seizures Short stature Respiratory insufficiency Neonatal hypotonia Muscle weakness Ptosis Intellectual disability, severe Skeletal muscle atrophy Gait disturbance Microcephaly Protruding ear Hyporeflexia Choreoathetosis Dystonia High palate Optic atrophy Feeding difficulties Respiratory insufficiency due to muscle weakness Myopathy Facial palsy Feeding difficulties in infancy Camptodactyly of finger Depressed nasal bridge Wide nasal bridge Pectus excavatum Spinal muscular atrophy Spastic tetraplegia Anteverted nares Long philtrum Micrognathia Macrotia Hyperreflexia Tetraplegia Visual impairment Paraplegia Strabismus Nystagmus Ataxia Failure to thrive Spastic paraplegia

Rare Symptoms - Less than 30% cases

Bowel incontinence Ankle contracture Muscle stiffness Generalized muscle weakness Cryptorchidism CNS hypomyelination Proximal amyotrophy Failure to thrive in infancy Pachygyria Progressive proximal muscle weakness Spinal rigidity Cachexia Difficulty climbing stairs Generalized amyotrophy Leukodystrophy Multiple joint contractures Abnormality of visual evoked potentials Lissencephaly Limb-girdle muscular dystrophy Spastic diplegia Mildly elevated creatine phosphokinase Abnormal pyramidal sign Involuntary movements Peripheral neuropathy Myopathic facies Proximal spinal muscular atrophy Abnormality of the metaphysis Bilateral single transverse palmar creases Open mouth Interphalangeal joint contracture of finger Malar flattening Hearing impairment Proptosis Dysarthria Rotary nystagmus Hypoplasia of penis Babinski sign Hyperlordosis Recurrent respiratory infections Cerebral cortical atrophy Micropenis Abnormality of movement Midface retrusion Agenesis of corpus callosum Macrocephaly Muscular dystrophy Congenital muscular dystrophy Delayed speech and language development Kyphoscoliosis Broad-based gait Delayed skeletal maturation Narrow forehead Short long bone Inability to walk Platyspondyly Narrow chest Micromelia Short palm Rhizomelia Short neck Absent speech Abnormal facial shape Short metacarpal Cerebellar atrophy Hypoplasia of the corpus callosum Talipes equinovarus Tremor Cataract Myopia Limb undergrowth Prominent supraorbital ridges Recurrent pneumonia Cognitive impairment Hypertelorism Proximal muscle weakness Rigidity Respiratory failure Adducted thumb Motor delay Muscular hypotonia of the trunk Relative macrocephaly Tongue fasciculations Hypoplastic ischia Abnormally ossified vertebrae Hypoplastic pubic bone Hypoplastic vertebral bodies Abnormality of the fingernails Severe muscular hypotonia Congenital contracture Proximal placement of thumb Vertebral hypoplasia Thickened nuchal skin fold Degeneration of anterior horn cells Squared iliac bones Microphallus Skin dimples Intrauterine growth retardation Microphthalmia Hypogonadism Brachycephaly Glaucoma Narrow mouth Deeply set eye Hydronephrosis Metaphyseal irregularity Renal phosphate wasting Hernia Severe platyspondyly Abnormality of metabolism/homeostasis Bell-shaped thorax Disproportionate short-limb short stature Hypospadias Protuberant abdomen Areflexia Inguinal hernia Anterior rib cupping Wide anterior fontanel Delayed epiphyseal ossification Dolichocephaly Neoplasm Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Wide intermamillary distance Hypophosphatemia Flat acetabular roof Flat occiput Abnormality of epiphysis morphology Posterior rib cupping Large fontanelles Metaphyseal cupping Decreased fetal movement Upper limb spasticity Short philtrum Abnormality of the skeletal system Depressed nasal ridge Lumbar hyperlordosis Abnormality of the skin Otitis media Retinal detachment Bulbous nose Conductive hearing impairment Arthralgia Ventricular septal defect Cleft palate Abnormal form of the vertebral bodies Sensorineural hearing impairment Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Hypoplasia of the musculature Delayed CNS myelination Abnormality of the neck Osteoarthritis Encephalocele Hypoplasia of the zygomatic bone Vitreoretinopathy Large tarsal bones Abnormal lacrimal duct morphology Prominent interphalangeal joints Enlarged epiphyses Premature osteoarthritis Coronal cleft vertebrae Short 5th metacarpal Enlarged joints Beaking of vertebral bodies Pierre-Robin sequence Short phalanx of finger Meningocele Glossoptosis Synostosis of carpal bones Occipital encephalocele Disproportionate short stature Abnormal joint morphology Mixed hearing impairment Flared metaphysis Epiphyseal dysplasia Macroorchidism Central hypotonia Congenital cataract Low anterior hairline Abnormal localization of kidney Retinal coloboma Severe postnatal growth retardation Cerebellar vermis atrophy Cortical dysplasia Decreased muscle mass Scrotal hypoplasia Aplasia/Hypoplasia of the corpus callosum Generalized hirsutism Cerebral visual impairment Hypoplastic labia minora Abnormality of retinal pigmentation Postnatal microcephaly Cerebellar vermis hypoplasia Decreased testicular size Abnormal cerebellum morphology Microcornea Hirsutism Polymicrogyria Delayed puberty Clitoral hypoplasia Frontoparietal polymicrogyria Hyperactive deep tendon reflexes Clonus Biparietal narrowing Aphasia Hallux valgus Athetosis Poor head control Drooling Intellectual disability, progressive Type I diabetes mellitus Narrow face Cerebral calcification Upslanted palpebral fissure Increased serum lactate Urinary incontinence Long face Abnormality of the foot Severe global developmental delay Abnormality of the pinna Irritability Abnormality of the nervous system Pes planus Hypothyroidism Broad thumb Psychomotor deterioration Blue sclerae Hyperextensibility at wrists Obesity Congestive heart failure Cardiomyopathy Coarse facial features Carcinoma Increased laxity of ankles Increased laxity of fingers Impaired mastication Arrhythmia Nocturnal hypoventilation Muscle fiber necrosis Slender build Type 1 muscle fiber predominance Follicular hyperkeratosis Recurrent lower respiratory tract infections Increased variability in muscle fiber diameter Dilatation Elevated serum creatine phosphokinase Torticollis Sudden cardiac death Frequent falls Palpitations Hypertriglyceridemia Atrial fibrillation Myocardial infarction Waddling gait Syncope Falls Pes cavus Vertigo Ichthyosis Lower limb muscle weakness Limb muscle weakness Dilated cardiomyopathy Hypertrophic cardiomyopathy Difficulty walking Dyspnea Abnormality of mitochondrial metabolism Congenital hip dislocation Bradycardia Talipes Abnormal autonomic nervous system physiology Flexion contracture of thumb Fine hair Generalized-onset seizure Dandy-Walker malformation Joint hypermobility Dysmetria Pectus carinatum Brittle hair Distal muscle weakness Corticospinal tract hypoplasia Gait ataxia Cerebellar hypoplasia Noncommunicating hydrocephalus Abnormality of the dentition Low-set ears Sparse eyelashes Sparse eyebrow EMG abnormality Joint laxity Growth hormone deficiency Round face Hip dislocation Paraparesis Scarring Spastic paraparesis Holoprosencephaly Increased intracranial pressure Hand clenching Hyperkeratosis Hyperhidrosis Hemiplegia/hemiparesis Absent septum pellucidum Renal cell carcinoma Aqueductal stenosis Growth delay Clear cell renal cell carcinoma Progressive muscle weakness Elbow flexion contracture Tapered finger Lower limb spasticity Arteriovenous malformation Head tremor Progressive spasticity Stridor Abnormality of the urinary system Cerebral palsy Increased body weight Clumsiness Progressive spastic quadriplegia Premature birth Chorea Ventriculomegaly Neurological speech impairment Paralysis Developmental regression Myoclonus Scanning speech Cerebral dysmyelination Behavioral abnormality Splenomegaly Short foot Small hand Wide mouth Respiratory tract infection Skeletal dysplasia Polyhydramnios Severe short stature Edema Macrogyria Frontal bossing Brachydactyly Hepatomegaly Reduction of oligodendroglia Diffuse cerebral sclerosis Congenital laryngeal stridor Sudanophilic leukodystrophy Head titubation Dementia Dysphagia Knee flexion contracture Toe walking Distal lower limb amyotrophy Limb-girdle muscle weakness Vocal cord paralysis Heart block Sprengel anomaly Rimmed vacuoles Calf muscle hypertrophy Myotonia Achilles tendon contracture Hydrocephalus Lipodystrophy Back pain Atrioventricular block Ventricular arrhythmia EMG: myopathic abnormalities Reduced tendon reflexes Scapular winging Shoulder girdle muscle weakness Distal lower limb muscle weakness Absent muscle fiber emerin Left anterior fascicular block Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Limb-girdle muscle atrophy Proximal muscle weakness in lower limbs Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Aplasia/Hypoplasia of the capital femoral epiphysis


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