Muscle weakness, and Subcutaneous nodule

Diseases related with Muscle weakness and Subcutaneous nodule

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

Top matches:

Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 2 is a very rare mild adult type of NAGA deficiency (see this term) with the features of angiokeratoma corporis diffusum (see this term) and mild sensory neuropathy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2 Is also known as alpha-n-acetylgalactosaminidase deficiency, type ii|kanzaki disease|naga deficiency, type ii|adult-onset alpha-n-acetylgalactosaminidase deficiency|naga deficiency type 2|schindler disease type 2|alpha-n-acetylgalactosaminidase deficiency, adult-onset|sch

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 2

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Other less relevant matches:

Stiff skin syndrome is a rare, slowly progressive cutaneous disease characterized by rock-hard skin bound firmly to the underlying tissues (mainly on the shoulders, lower back, buttocks and thighs), mild hypertrichosis and hyperpigmentation overlying the affected areas of skin, as well as limited joint mobility (mainly of large joints) with flexion contractures. Cutaneous nodules, affecting mostly distal interphalangeal joints, as well as extracutaneous manifestations, including diffuse entrapment neuropathy, scoliosis, a tiptoe gait and a narrow thorax, may be associated. Restrictive pulmonary changes, muscle weakness, short stature and growth delay have also been reported. No vascular hyperreactivity, immunologic abnormalities nor visceral, muscular or bone involvement has been described.

Related symptoms:

  • Short stature
  • Scoliosis
  • Strabismus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about STIFF SKIN SYNDROME

Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

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

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 SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Low match COWDEN SYNDROME

Cowden syndrome (CS) is a difficult to recognize, under-diagnosed genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS; see this term) group.

COWDEN SYNDROME Is also known as bzs|cowden disease|bbrs|macrocephaly, multiple lipomas, and hemangiomata|pten hamartoma tumor syndrome with granular cell tumor|bannayan-zonana syndrome|macrocephaly, pseudopapilledema, and multiple hemangiomata|cs|cd|mham|pten hamartoma tumor syndrome|ri

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COWDEN SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Subcutaneous nodule

Symptoms // Phenotype % cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Papule Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Meningioma Multiple cafe-au-lait spots Cataract Short stature Pain Headache Multiple lipomas Hamartoma Macrocephaly Neoplasm Intellectual disability, mild Scoliosis Telangiectasia Global developmental delay Ataxia Hypertension Neoplasm of the skin Vertigo Visual impairment Neoplasm of the central nervous system Astrocytoma Tinnitus Increased intracranial pressure Facial palsy Arthralgia Fever Migraine

Rare Symptoms - Less than 30% cases

Glaucoma Anorexia Severe short stature Intellectual disability Angioid streaks of the fundus Broad thumb Micrognathia Frontal bossing Lymphoma Myopathy Hemoptysis Pectus excavatum Lymphadenopathy Paralysis Cafe-au-lait spot Bone cyst Erythema nodosum Macrotia Arrhythmia Splenomegaly Congestive heart failure Hyperostosis Hepatomegaly Increased antibody level in blood Elevated erythrocyte sedimentation rate Motor delay Nephrolithiasis Kyphosis Scarring Neurological speech impairment Blindness Melanocytic nevus Hyperuricemia Abnormality of the musculature Lipoatrophy Lipodystrophy Chest pain Hyperthyroidism Retinopathy Cognitive impairment Lipoma Arteriovenous malformation Intestinal polyposis Hamartomatous polyposis Lymphedema Thick lower lip vermilion Hypothyroidism Occasional neurofibromas Cutis marmorata Proximal muscle weakness Pseudoepiphyses of the metacarpals Dysgraphia Abnormality of the retinal vasculature Cranial nerve paralysis Sensory neuropathy Corneal opacity Gait disturbance Hashimoto thyroiditis Cardiomegaly Macroglossia Intracranial hemorrhage Dilatation Anemia Fatigue Weight loss Hyperhidrosis Arthritis Abnormal salivary gland morphology Palpitations Anterior uveitis Pancytopenia Iridocyclitis Dacryocystitis Abnormal conjunctiva morphology Vitreous floaters Vitritis Syncope Abnormal lung morphology Abnormal reproductive system morphology Abnormality of skin morphology Enlargement of parotid gland Sudden cardiac death Hypopigmentation of the skin Posterior vitreous detachment Abnormality of the adrenal glands Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormal liver parenchyma morphology Interstitial pulmonary abnormality Chorioretinal atrophy Parotitis Blurred vision Pulmonary fibrosis Emphysema Abnormal cardiac ventricular function Increased T cell count Chorioretinitis Increased CSF protein Abnormality of the lymph nodes Portal hypertension Skin nodule Eosinophilia Immune dysregulation Macular edema Hypercalciuria Hypercalcemia Upper airway obstruction Ventricular tachycardia Abnormality of the gastrointestinal tract Tubulointerstitial nephritis Joint swelling Pleural effusion Hypothermia Heart block Epiphora Night sweats Uveitis Inflammation of the large intestine Leukopenia Bronchiectasis Hyperpigmentation of the skin Decreased liver function Nephrocalcinosis Generalized lymphadenopathy Osteolysis Abnormality of the cerebrospinal fluid Cystoid macular edema Anterior synechiae of the anterior chamber Diabetes insipidus Chylothorax Vitreous hemorrhage Keratoconjunctivitis sicca Optic neuropathy Abnormality of the pleura Pneumothorax Skin plaque Nausea and vomiting Abnormality of the nasal mucosa Furrowed tongue Decreased proportion of CD4-positive T cells Generalized hyperkeratosis Fibroma Papilloma Enlarged polycystic ovaries Cavernous hemangioma Long penis Cellular immunodeficiency Ovarian cyst Abnormality of the uterus Hydrocele testis Colonic diverticula Megalencephaly Skin tags Prolactin excess Papilledema Abnormality of the vasculature Scaphocephaly Renal cell carcinoma Hodgkin lymphoma Thyroiditis Ovarian neoplasm Adenoma sebaceum Subcutaneous lipoma Cellulitis Transitional cell carcinoma of the bladder Multiple trichilemmomata Merkel cell skin cancer Ductal carcinoma in situ Conjunctival hamartoma Dysplastic gangliocytoma of the cerebellum Trichilemmoma Enlarged cerebellum Cutis marmorata telangiectatica congenita Fibroadenoma of the breast Neoplasm of the thyroid gland Acrokeratosis Abnormality of the penis Mucosal telangiectasiae Pseudopapilledema Progressive macrocephaly Colorectal polyposis Endometrial carcinoma Follicular thyroid carcinoma Varicocele Thyroid adenoma Intestinal polyp Ovarian carcinoma Acute myeloid leukemia Cystic hygroma Maculopapular exanthema Myopia Carcinoma Narrow mouth Autism Recurrent infections Immunodeficiency Diarrhea Atrial septal defect Hydrocephalus Tremor Downslanted palpebral fissures Brachydactyly Abnormality of the kidney Delayed speech and language development High palate Low-set ears Failure to thrive Hypertelorism Generalized hypotonia Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Intellectual disability, moderate Leukemia Abnormality of the thyroid gland Drooling Macule Hand polydactyly Dysdiadochokinesis Incoordination Palmoplantar hyperkeratosis Goiter Breast carcinoma Melanoma Hypopigmented skin patches Hemangioma Lymphopenia Hepatic failure Gynecomastia Exotropia Chronic diarrhea Intention tremor Overgrowth Decreased antibody level in blood Abnormal cerebellum morphology Hypoplasia of the maxilla Palmoplantar keratoderma Polymicrogyria Joint hypermobility Hemolytic anemia Muscular hypotonia Cough Narrow chest Decreased muscle mass Mild short stature Ectopia lentis Thickened skin Hypertrichosis Type II diabetes mellitus Limitation of joint mobility Retinal detachment Midface retrusion Scleroderma Flexion contracture Strabismus Increased inflammatory response Hypertensive crisis Arteritis Gastrointestinal infarctions Amaurosis fugax Abnormal endocardium morphology Aplasia/Hypoplasia of the skin Impaired pain sensation Arterial stenosis Oral-pharyngeal dysphagia Epiretinal membrane Cortical cataract Lisch nodules Schwannoma Posterior subcapsular cataract Subcapsular cataract Axonal loss Neurofibromas Progressive hearing impairment Abnormality of lipid metabolism Sensorimotor neuropathy Progressive visual loss Generalized muscle weakness Reduced visual acuity Visual loss Entrapment neuropathy Stiff skin Lack of skin elasticity Ascending tubular aorta aneurysm Abnormal pattern of respiration Spinal cord tumor Peripheral axonal neuropathy Telangiectasia of the skin Axonal degeneration Opacification of the corneal stroma Aminoaciduria Bilateral sensorineural hearing impairment Polyneuropathy Thick vermilion border Distal sensory impairment Dry skin Motor polyneuropathy Abnormality of the cerebral white matter Distal muscle weakness Abnormality of the eye Coarse facial features Hyperkeratosis Cerebral atrophy Depressed nasal bridge Benign neoplasm of the central nervous system Abnormality of the periventricular white matter Progressive distal muscle weakness Inflammatory abnormality of the eye Skin ulcer Abnormal aortic valve morphology Reduced consciousness/confusion Cerebral ischemia Gangrene Abnormal heart valve morphology Psoriasiform dermatitis Aortic regurgitation Vasculitis Myocardial infarction Angiokeratoma Pulmonary arterial hypertension Hypertrophic cardiomyopathy Myalgia Telangiectasia of the oral mucosa White mater abnormalities in the posterior periventricular region Distal sensory impairment of all modalities Increased urinary O-linked sialopeptides Lip telangiectasia Angiokeratoma corporis diffusum Ependymoma Decreased corneal sensation Erythema Long philtrum Narrow palate Tall stature Nevus Wide nose Joint hyperflexibility Dolichocephaly Hypoglycemia Delayed skeletal maturation Short nose Cachexia Anteverted nares Hydroxyprolinemia Hydroxyprolinuria Elevated serum acid phosphatase Macular scar Limb pain Rough bone trabeculation Cranial hyperostosis Delayed gross motor development Aortic aneurysm Vertebral compression fractures Abnormal large intestine morphology Photophobia Dyspnea Alopecia Thrombocytopenia Renal insufficiency Edema Respiratory distress Neoplasm of the adrenal cortex Uterine neoplasm Irregular hyperpigmentation Abdominal wall muscle weakness Subcutaneous hemorrhage Neoplasm of the breast Visceral angiomatosis Thyroid carcinoma Angina pectoris Abnormality of the optic nerve Capillary hemangioma Lower limb pain Hyperphosphatemia Vestibular Schwannoma Joint stiffness Microcytic anemia Right bundle branch block Abnormality of the face Prominent nose Arachnodactyly Arthrogryposis multiplex congenita Skin rash Abnormal pyramidal sign Respiratory insufficiency Clubbing of fingers Capsular cataract Juvenile posterior subcapsular lenticular opacities Unilateral vestibular Schwannoma Peripheral Schwannoma Bilateral vestibular Schwannoma Mononeuropathy Retinal hamartoma Neuroma Episodic fever Clubbing of toes Barrel-shaped chest Abnormality of retinal pigmentation Abnormality of the clavicle Ankylosis Premature loss of teeth Severe sensorineural hearing impairment Thickened calvaria Elevated alkaline phosphatase Mutism Increased bone mineral density Bowing of the long bones Abnormality of the Leydig cells Recurrent fractures Retinal degeneration Pectus carinatum Respiratory failure Brachycephaly Osteoporosis Pneumonia Abnormality of the dentition Optic atrophy Lobular carcinoma in situ


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