Hypertension, and Proximal muscle weakness

Diseases related with Hypertension and Proximal muscle weakness

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

Top matches:

Cushing syndrome is a clinical designation for the systemic signs and symptoms arising from excess cortisol production. Affected individuals typically show hypertension, impaired glucose tolerance, central obesity, osteoporosis, and sometimes depression. Corticotropin-independent Cushing syndrome results from autonomous cortisol production by the adrenal glands, often associated with adrenocortical tumors. Adrenocortical tumors are most common in adult females (summary by Cao et al., 2014; Sato et al., 2014).

PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4 Is also known as chromosome 19p13 duplication syndrome|cushing syndrome, adrenal, due to ppnad4

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Obesity
  • Depressivity
  • Alopecia


SOURCES: OMIM MENDELIAN

More info about PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4; PPNAD4

MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY Is also known as myh7-related late-onset scapuloperoneal syndrome|myh7-related late-onset spmd

Related symptoms:

  • Intellectual disability
  • Hypertension
  • Gait disturbance
  • Arrhythmia
  • Elevated serum creatine phosphokinase


SOURCES: ORPHANET MENDELIAN

More info about MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY

X-linked myopathy with postural muscle atrophy is a rare progressive muscular dystrophy characterized by an adult-onset scapulo-axio-peroneal myopathy. Clinical presentation includes shoulder girdle atrophy, scapular winging, axial muscular atrophy of postural muscles combined with a generalized hypertrophy. Typically, neck rigidity, rigid spine, Achilles tendon shortening, and respiratory insufficiency later in disease course are present.

X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY Is also known as xmpma

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Ptosis
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH POSTURAL MUSCLE ATROPHY

Other less relevant matches:

GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

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

Top 5 symptoms//phenotypes associated to Hypertension and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Very Common - Between 80% and 100% cases
Congestive heart failure Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertension and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Cardiomyopathy Arrhythmia Gait disturbance Intellectual disability Palpitations Elevated serum creatine phosphokinase Limb muscle weakness Muscular dystrophy Hyporeflexia Mental deterioration Hyperlordosis Dysphagia Rigidity Flexion contracture Limited neck flexion Ventricular hypertrophy Global developmental delay Tremor Increased variability in muscle fiber diameter Dilated cardiomyopathy Hepatomegaly Respiratory insufficiency Cognitive impairment Myalgia Depressivity

Rare Symptoms - Less than 30% cases

Left ventricular hypertrophy Ptosis Arthrogryposis multiplex congenita Osteoporosis Spinal rigidity Waddling gait Bipolar affective disorder Distal sensory impairment Sudden cardiac death Difficulty walking Scoliosis Progressive muscle weakness Abnormality of the cerebral white matter Respiratory distress Increased circulating cortisol level Stroke Confusion Hearing impairment Back pain Increased body weight Hirsutism Respiratory failure Myotonia Hypertrophic cardiomyopathy Diabetes mellitus Axial muscle weakness Decreased liver function Abnormality of the eye Lower limb muscle weakness Facial palsy Pes cavus Dyspnea Muscle cramps Weight loss Fever Scapular winging Reduced tendon reflexes EMG: myopathic abnormalities Heart murmur Obesity Myopathic facies Exercise intolerance Tachycardia Hyperreflexia Impaired myocardial contractility Edema Abnormality of the liver Generalized amyotrophy Peripheral neuropathy Muscular hypotonia Failure to thrive Generalized hypotonia Fatigue Saccadic smooth pursuit Nasal speech Neonatal hypotonia Poor fine motor coordination Poor head control Apnea Pneumonia Motor delay High palate Short stature Impaired tandem gait Subcortical dementia Inertia Obsessive-compulsive trait Elbow flexion contracture Diffuse cerebellar atrophy Impaired distal vibration sensation Abnormal nerve conduction velocity Cough Generalized muscle weakness Abnormality of brainstem morphology Pollakisuria Retrocollis Diffuse cerebral atrophy Dysesthesia Progressive cerebellar ataxia Horizontal nystagmus Limb ataxia Intention tremor Bradykinesia Memory impairment Hypotension Urinary incontinence Brain atrophy Parkinsonism Paraparesis Abnormal cerebellum morphology Postural instability Dysmetria Abnormality of movement Irritability Aggressive behavior Anxiety Hypothyroidism Abnormal autonomic nervous system physiology Spastic paraparesis Kinetic tremor Abnormality of the thyroid gland Disinhibition Astrocytosis Olivopontocerebellar atrophy Congenital muscular dystrophy Action tremor Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Resting tremor Bowel incontinence Dysdiadochokinesis Global brain atrophy Agitation Impotence Mask-like facies Postural tremor Obsessive-compulsive behavior Apathy Premature ovarian insufficiency Gowers sign Hypogonadism High pitched voice Hemangioma Freckling Macule Neurofibromas Hypermelanotic macule Precocious puberty Sarcoma Ischemic stroke Gynecomastia Growth hormone excess Cafe-au-lait spot Tall stature Abnormality of the skin Nevus Papule Carcinoma Neoplasm Iridescent posterior subcapsular cataract Striae distensae Blue irides Diffuse leukoencephalopathy Pituitary prolactin cell adenoma Myxoid subcutaneous tumors Thyroid follicular hyperplasia Profuse pigmented skin lesions Cardiac myxoma Uterine leiomyoma Follicular thyroid carcinoma Follicular hyperplasia Testicular neoplasm Fibroma Macroorchidism Multiple lentigines Red hair Schwannoma Paraganglioma Pheochromocytoma Thyroid carcinoma Generalized hypopigmentation Pituitary adenoma Insulin insensitivity Frontal balding Hip contracture Reduced vital capacity Hamstring contractures Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Respiratory arrest Type 1 and type 2 muscle fiber minicore regions Abnormality of the rib cage Restrictive deficit on pulmonary function testing Cor pulmonale Right ventricular hypertrophy Thoracolumbar scoliosis Malignant hyperthermia Hypoventilation Neck muscle weakness Abnormality of skeletal morphology Abnormality on pulmonary function testing Type 2 muscle fiber atrophy Neurofibrillary tangles Hypersomnia Arteriosclerosis Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism Oligospermia IgG deficiency Epiphora Cardiac conduction abnormality Leukoencephalopathy Hypercholesterolemia Spontaneous abortion Decreased antibody level in blood Infertility Distal muscle weakness Gait ataxia Cataract Autism Psychosis Cerebral cortical atrophy Limb-girdle muscle weakness Cirrhosis Hepatosplenomegaly Polyhydramnios Talipes equinovarus Hip flexor weakness Scapuloperoneal weakness Stiff neck Rimmed vacuoles Ascites Skeletal muscle hypertrophy Dysphonia Dilatation Short neck Limitation of movement at ankles Decreased patellar reflex Beevor's sign Hepatic failure Decreased fetal movement Triceps weakness Generalized edema Tetraplegia Paralysis Proptosis Hyperhidrosis Constipation Limb joint contracture Tubulointerstitial fibrosis Esophageal varix Hydrops fetalis Fetal akinesia sequence Exertional dyspnea Difficulty climbing stairs Akinesia Limb-girdle muscular dystrophy Portal hypertension Hepatic fibrosis Abnormality of the foot musculature Decreased Achilles reflex EMG abnormality Ecchymosis Pes planus Macronodular adrenal hyperplasia Primary hypercortisolism Dorsocervical fat pad Moon facies Adrenocortical adenoma Abdominal obesity Adrenal hyperplasia Abnormality of the cardiovascular system Fragile skin Glucose intolerance Emotional lability Acne Bruising susceptibility Osteopenia Alopecia Abnormal cardiac septum morphology Foot dorsiflexor weakness Limited wrist extension Proximal lower limb amyotrophy Tibialis muscle weakness Limited shoulder movement Enlargement of the ankles Limited hip movement Left anterior fascicular block Upper limb amyotrophy Increased endomysial connective tissue Shoulder girdle muscle atrophy Steppage gait Hand muscle weakness Muscle fiber splitting Left ventricular failure Distal lower limb muscle weakness Chronic obstructive pulmonary disease Shoulder girdle muscle weakness Upper limb muscle weakness Centrally nucleated skeletal muscle fibers Muscle stiffness Goiter Dementia Ventricular arrhythmia Reduced ejection fraction Abnormality of the gastrointestinal tract Cardiorespiratory arrest Hypokinesia Abnormal retinal morphology Neurodevelopmental delay Abnormal electroretinogram Cone/cone-rod dystrophy Myocardial fibrosis Respiratory insufficiency due to muscle weakness Ventricular tachycardia Hyperlipidemia Cardiac arrest Atrial fibrillation Cardiomegaly Pigmentary retinopathy Wolff-Parkinson-White syndrome Myofibrillar myopathy Chest pain Suicidal ideation Cerebellar atrophy Dysarthria Nystagmus Ataxia Seizures Glycogen accumulation in muscle fiber lysosomes Increased cerebral lipofuscin Macular hypopigmentation Skeletal myopathy Left ventricular systolic dysfunction Myocardial necrosis Ventricular preexcitation Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Progressive visual loss Distal amyotrophy Hypokalemia Hashimoto thyroiditis Abnormality of muscle fibers Periodic paralysis Urinary retention Abnormality of peripheral nerve conduction Graves disease Heat intolerance Hypomagnesemia Thyroiditis Shortened PR interval Rhabdomyolysis Hyperthyroidism Prolonged QT interval Mildly elevated creatine phosphokinase Hyperkalemia Ventricular fibrillation Ophthalmoparesis Postprandial hyperglycemia Increased intramyocellular lipid droplets Retinopathy Thyrotoxicosis with toxic single thyroid nodule Scarring Reduced visual acuity Hyperactivity Visual loss Myopia Visual impairment Thyrotoxicosis with toxic multinodular goitre Transient hypophosphatemia Periodic hypokalemic paresis Decreased urinary potassium Episodic hypokalemia Thyrotoxicosis with diffuse goiter Second degree atrioventricular block Episodic flaccid weakness Respiratory paralysis Late-onset proximal muscle weakness Exercise-induced muscle fatigue Cutaneous myxoma


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