Muscle weakness, and Nevus

Diseases related with Muscle weakness and Nevus

In the following list you will find some of the most common rare diseases related to Muscle weakness and Nevus that can help you solving undiagnosed cases.


Top matches:

Low match HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2


A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Other pregnancy losses in this condition include partial hydatidiform mole, stillbirths, ectopic pregnancies, early neonatal deaths, and miscarriages, some of which may be undiagnosed molar pregnancies. Normal pregnancies are extremely rare in families with this condition (summary by Fallahian et al., 2013).For a discussion of genetic heterogeneity of recurrent hydatidiform mole, see HYDM1 (OMIM ).

HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2 Is also known as hydatidiform mole, complete

Related symptoms:

  • Nevus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23


Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

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Other less relevant matches:

Low match SPINOCEREBELLAR ATAXIA 2; SCA2


Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (OMIM ), SCA2, and SCA3, or Machado-Joseph disease (OMIM ). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 2; SCA2 Is also known as wadia-swami syndrome|spinocerebellar ataxia, cuban type|olivopontocerebellar atrophy, holguin type|spinocerebellar degeneration with slow eye movements|olivopontocerebellar atrophy ii|spinocerebellar atrophy ii|cerebellar degeneration with slow eye moveme

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 2; SCA2

Low match CARNEY COMPLEX, TYPE 1; CNC1


Carney complex is an autosomal dominant multiple neoplasia syndrome characterized by cardiac, endocrine, cutaneous, and neural myxomatous tumors, as well as a variety of pigmented lesions of the skin and mucosae. Carney complex may simultaneously involve multiple endocrine glands, similar to classic MEN syndromes (MEN1; {131100} and MEN2; {171400}). Carney complex shows some similarities to McCune-Albright syndrome (MAS ), a sporadic condition that is also characterized by multiple endocrine and nonendocrine tumors, and shares skin abnormalities and some nonendocrine tumors with the lentiginoses and certain of the hamartomatoses, particularly Peutz-Jeghers syndrome (PJS ). Carney complex is often associated with the unusual large-cell calcifying Sertoli cell tumor and psammomatous melanotic schwannomas (Kirschner et al., 2000; Stratakis et al., 2001).

CARNEY COMPLEX, TYPE 1; CNC1 Is also known as lamb syndrome|myxoma, spotty pigmentation, and endocrine overactivity|carney myxoma-endocrine complex|car|carney syndrome|name syndrome

Related symptoms:

  • Neoplasm
  • Muscle weakness
  • Pain
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about CARNEY COMPLEX, TYPE 1; CNC1

Low match PONTOCEREBELLAR HYPOPLASIA TYPE 7


Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype.

PONTOCEREBELLAR HYPOPLASIA TYPE 7 Is also known as pontocerebellar hypoplasia-46,xy disorder of sex development syndrome|pch7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 7

Low match JUVENILE PAGET DISEASE


Juvenile Paget disease is a very rare form of Paget disease of the bone characterized by a general increase in bone turnover with increased bone resorption and deposition, resulting in cortical and trabecular thickening, and clinically presenting as progressive skeletal deformities, growth impairment, fractures, vertebral collapse, skull enlargement and sensorineural hearing loss.

JUVENILE PAGET DISEASE Is also known as familial osteoectasia|hyperphosphatasia, familial idiopathic|juvenile paget disease|hyperostosis corticalis deformans juvenilis|hereditary hyperphosphatasia|osteoectasia, familial|hyperphosphatasemia, chronic congenital idiopathic|juvenile paget's disease

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about JUVENILE PAGET DISEASE

Low match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Low match BANNAYAN-RILEY-RUVALCABA SYNDROME


Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.

BANNAYAN-RILEY-RUVALCABA SYNDROME Is also known as brrs|myhre-riley-smith syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about BANNAYAN-RILEY-RUVALCABA SYNDROME

Low match LINEAR NEVUS SEBACEUS SYNDROME


Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Nevus

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Nevus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature Muscular hypotonia Neoplasm Chorea Ataxia Micrognathia Hypertension Cognitive impairment Precocious puberty Nystagmus Abnormality of the eye Motor delay Macrocephaly Frontal bossing Optic atrophy

Rare Symptoms - Less than 30% cases


Dysmetria Sleep disturbance Skeletal muscle atrophy Tremor Dysphagia Retinal degeneration Generalized hypotonia Myoclonus Abnormality of eye movement Dystonia Ophthalmoplegia Retinopathy Cerebral atrophy Dysarthria Apnea Hyporeflexia Dementia Poor coordination Diplopia Kyphosis Irregular hyperpigmentation Cerebral calcification Neurological speech impairment EEG abnormality Osteopenia Agenesis of corpus callosum Growth delay Scoliosis Melanocytic nevus Subcutaneous nodule Recurrent fractures Respiratory failure Gliosis Fasciculations Abnormality of the cerebral white matter Macrotia Ventriculomegaly Thyroid carcinoma Neurofibromas Hemangioma Tall stature Carcinoma Weight loss Osteoporosis Pain Multiple lentigines Oculomotor apraxia Hyperpigmented nevi High palate Overgrowth Horseshoe kidney Microcephaly Flexion contracture Peripheral neuropathy Gait disturbance Cryptorchidism Kyphoscoliosis Abnormality of the nervous system Facial asymmetry Spastic paraplegia Hypopigmentation of the skin Cafe-au-lait spot Hepatomegaly Hemihypertrophy Bowel incontinence Micropenis Hypoglycemia Nevus flammeus Bulbar signs Clonus Recurrent singultus Microcoria Peripheral demyelination Hypotension Amenorrhea Muscle stiffness Sudden cardiac death Tetraplegia Nausea and vomiting Delayed speech and language development Cough Abnormal pyramidal sign Hyperlordosis Leukodystrophy Abnormal autonomic nervous system physiology Progressive macrocephaly Dysphasia Aqueductal stenosis Megalencephaly Increased CSF protein Hypersomnia Drowsiness Atrophy/Degeneration affecting the brainstem Muscle fibrillation Progressive spasticity Emotional lability Hypothermia Oral-pharyngeal dysphagia Developmental regression Encephalitis Large face Dysphonia Sleep apnea Pseudobulbar signs Leukoencephalopathy Self-injurious behavior Premature graying of hair Facial palsy Abnormality of the clavicle Limb pain Rough bone trabeculation Cranial hyperostosis Lower limb pain Vertebral compression fractures Hyperphosphatemia Barrel-shaped chest Ankylosis Macular scar Premature loss of teeth Severe sensorineural hearing impairment Hyperuricemia Thickened calvaria Hyperostosis Elevated alkaline phosphatase Mutism Increased bone mineral density Angioid streaks of the fundus Elevated serum acid phosphatase Ventricular septal defect Hydrocephalus Hypothyroidism Diabetes mellitus Hyperhidrosis Splenomegaly Anteverted nares Constipation Depressivity Vomiting Respiratory insufficiency Hydroxyprolinuria Short neck Clinodactyly Feeding difficulties Ptosis Failure to thrive Abnormal heart morphology Inguinal hernia Hydroxyprolinemia Diffuse demyelination of the cerebral white matter Joint hyperflexibility Myopathy Plagiocephaly Vertebral segmentation defect Prominent occiput Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Rickets Abnormality of vision Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Exotropia Biparietal narrowing Pachygyria Coarctation of aorta Dandy-Walker malformation Generalized muscle weakness Iris coloboma Ichthyosis Talipes Corneal opacity Basal cell carcinoma Osteomalacia Coloboma Abnormality of dental color Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Epidermal nevus Hemimegalencephaly Cranial asymmetry Adenoma sebaceum Dilatation of the cerebral artery Asymmetric growth Cavernous hemangioma Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Abnormality of finger Gangrene Genu recurvatum Attention deficit hyperactivity disorder Telecanthus Short nose Lymphedema Multiple cafe-au-lait spots Multiple lipomas Cutis marmorata Aortic aneurysm Intracranial hemorrhage Cachexia Delayed gross motor development Narrow palate Telangiectasia Cleft palate Broad thumb Lymphoma Wide nose Polyhydramnios Dolichocephaly Delayed skeletal maturation Pectus excavatum Long philtrum Hamartoma Hashimoto thyroiditis Alopecia Abdominal wall muscle weakness Dilatation Microphthalmia Syndactyly Blindness Talipes equinovarus Neoplasm of the adrenal cortex Abnormal large intestine morphology Uterine neoplasm Subcutaneous hemorrhage Lipoma Hamartomatous polyposis Neoplasm of the breast Visceral angiomatosis Intestinal polyposis Angina pectoris Abnormality of the optic nerve Arteriovenous malformation Meningioma Capillary hemangioma Abnormality of retinal pigmentation Pneumonia Bowing of the long bones External ophthalmoplegia Gaze-evoked nystagmus Impaired vibratory sensation Postural tremor Spinal muscular atrophy Dysdiadochokinesis Poor head control Drooling Abdominal wall defect Rhabdomyosarcoma Truncal ataxia Anterior creases of earlobe Embryonal neoplasm Limb ataxia Broad-based gait Progressive neurologic deterioration Abnormality of extrapyramidal motor function Bradykinesia Resting tremor Urinary bladder sphincter dysfunction Neuronal loss in central nervous system Central nervous system degeneration Congestive heart failure Respiratory distress Fatigue Fever Visceromegaly Palatal myoclonus Impaired horizontal smooth pursuit Downbeat nystagmus Hypopnea Action tremor Supranuclear ophthalmoplegia Pontocerebellar atrophy Dysmetric saccades Hypometric saccades Dilated fourth ventricle Olivopontocerebellar atrophy Spinocerebellar tract degeneration Slow saccadic eye movements Pigmentary retinopathy Auricular pit Dyspnea Hyperpigmentation in sun-exposed areas Waddling gait Febrile seizures Spastic gait Visual impairment Narrow face Paraparesis Spastic paraparesis Premature graying of body hair Abnormality of the genitourinary system Sepsis Silver-gray hair Bowel urgency Flexion contracture of toe Progressive spastic paraparesis White hair Progeroid facial appearance Vitiligo Progressive spastic paraplegia Sensory impairment Cerebellar atrophy Progressive cerebellar ataxia Pallor Parkinsonism Abnormal cerebellum morphology Postural instability Neurodegeneration Sensory neuropathy Dyskinesia Distal amyotrophy Babinski sign Retrognathia Lower limb muscle weakness Mental deterioration Neonatal hypotonia Rigidity Difficulty walking Gait ataxia Hip dislocation Rod-cone dystrophy Paraplegia Diastasis recti Proximal muscle weakness Umbilical hernia Upslanted palpebral fissure Ambiguous genitalia Esotropia Delayed myelination Macroglossia Irritability Muscular hypotonia of the trunk Premature birth Hypogonadism Hypergonadotropic hypogonadism Cerebellar hypoplasia Absent speech Hypertonia Hypoplasia of the corpus callosum Wide nasal bridge Epicanthus Depressed nasal bridge Omphalocele Progressive microcephaly Prominent supraorbital ridges Cutaneous myxoma Autistic behavior Pectus carinatum Scarring Arthralgia Brachycephaly Severe short stature Axonal degeneration Abnormality of the kidney Abnormality of the dentition Sensorineural hearing impairment Clitoral hypertrophy Hearing impairment Olivopontocerebellar hypoplasia Microphallus Sex reversal Thick upper lip vermilion Hypoplasia of the pons Flat occiput Hypoplasia of the brainstem Abnormality of the face Myxoid subcutaneous tumors Myalgia Increased body weight Macule Nephroblastoma Hypermelanotic macule Heart murmur Large for gestational age Sarcoma Ischemic stroke Abnormality of the ureter Gynecomastia Striae distensae Enlarged kidney Palpitations Abnormality of the skin Hirsutism Confusion Papule Stroke Neonatal hypoglycemia Freckling Growth hormone excess Thyroid follicular hyperplasia Red hair Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Testicular neoplasm Pituitary prolactin cell adenoma Fibroma Schwannoma Bipolar affective disorder Paraganglioma Pheochromocytoma Abnormality of the outer ear Generalized hypopigmentation Pituitary adenoma Macroorchidism Blue irides Increased circulating cortisol level Nevus sebaceus



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Polyhydramnios, related diseases and genetic alterations Downslanted palpebral fissures and Upslanted palpebral fissure, related diseases and genetic alterations Lymphoma and Acute leukemia, related diseases and genetic alterations Ptosis and Anal atresia, related diseases and genetic alterations

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