Skeletal muscle atrophy, and Weight loss

Diseases related with Skeletal muscle atrophy and Weight loss

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Weight loss that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION


Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported.

CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION Is also known as mdcl|lmna-related congenital muscular dystrophy|l-cmd

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY DUE TO LMNA MUTATION

Medium match HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES


Hereditary neuropathy with liability to pressure palsies (HNPP) is an inherited peripheral nerve disorder characterized by recurrent mononeuropathy usually triggered by minor physical activities.

HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES Is also known as hnpp|potato-grubbing palsy|polyneuropathy, familial recurrent|current pressure-sensitive neuropathy|heterozygous microdeletion 17p11.2p12|tulip-bulb digger's palsy|tomaculous neuropathy

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEREDITARY NEUROPATHY WITH LIABILITY TO PRESSURE PALSIES

Medium match AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY


Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.

AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY Is also known as autosomal dominant benign distal spinal muscular atrophy|spinal muscular atrophy, distal, congenital nonprogressive|dhmn8|neuropathy, distal hereditary motor, type viii|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY

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Other less relevant matches:

Medium match SÉZARY SYNDROME


Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Low match RIBOFLAVIN TRANSPORTER DEFICIENCY


Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Low 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

Low match MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY


Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Low match CHRISTIANSON SYNDROME


Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Low match PELIZAEUS-MERZBACHER DISEASE; PMD


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

Low match PRIMARY SCLEROSING CHOLANGITIS


Primary sclerosing cholangitis (PSC) is a rare, slowly progressive liver disease characterized by inflammation and destruction of the intra- and/or extra-hepatic bile ducts that lead to cholestasis, liver fibrosis, liver cirrhosis and ultimately liver failure.

PRIMARY SCLEROSING CHOLANGITIS Is also known as psc

Related symptoms:

  • Pain
  • Hypertension
  • Hepatomegaly
  • Fever
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY SCLEROSING CHOLANGITIS

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Weight loss

Symptoms // Phenotype % cases
Cachexia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Weight loss. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Pain Dysphagia Ataxia Scoliosis Limb muscle weakness Intellectual disability Muscular hypotonia Hyporeflexia Hearing impairment Kyphosis Generalized amyotrophy Areflexia Global developmental delay Myoclonus Paralysis Abnormality of eye movement Dysarthria Seizures Tremor Joint stiffness Cerebral cortical atrophy Proximal muscle weakness Talipes equinovarus Myopathy Motor delay Muscular dystrophy Failure to thrive Growth delay

Rare Symptoms - Less than 30% cases


Peripheral axonal neuropathy Bowel incontinence Hypertension Visual impairment Ptosis Involuntary movements Distal muscle weakness Pruritus Distal amyotrophy Hepatosplenomegaly Splenomegaly Arthrogryposis multiplex congenita Fever Hepatomegaly Stridor Spinal muscular atrophy Abdominal pain Developmental regression Gastroesophageal reflux Microcephaly Elevated hepatic transaminase Ophthalmoplegia Slender build Difficulty climbing stairs Abnormality of mitochondrial metabolism Cirrhosis Leukodystrophy Decreased muscle mass Nystagmus Facial palsy Feeding difficulties in infancy Delayed speech and language development Hyperreflexia Neonatal hypotonia Intellectual disability, severe Short stature Dystonia Encephalopathy Scarring Dementia Vocal cord paresis EMG abnormality Cranial nerve paralysis Congestive heart failure Spinal rigidity Feeding difficulties Decreased fetal movement Paresthesia Limitation of joint mobility Polyneuropathy Decreased motor nerve conduction velocity Elevated serum creatine phosphokinase Foot dorsiflexor weakness Hyperlordosis Generalized muscle weakness Narrow chest Abnormality of the foot Pes cavus Congenital muscular dystrophy Peripheral demyelination Gait disturbance Respiratory insufficiency due to muscle weakness Abnormality of movement Lymphoma Talipes Joint hyperflexibility Fatigue Axonal degeneration Infantile muscular hypotonia Hyperkinesis Drooling Adducted thumb Aplasia/Hypoplasia of the corpus callosum Mutism Dysphasia Abnormality of the thorax Conspicuously happy disposition Recurrent respiratory infections Babinski sign Behavioral abnormality Optic atrophy Spasticity Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Inappropriate laughter Aplasia/Hypoplasia of the cerebellum Happy demeanor Abnormality of the nose Dyslexia Atrophy/Degeneration affecting the brainstem Slender finger Long nose Narrow face Intellectual disability, progressive Intellectual disability, profound Truncal ataxia Ventriculomegaly Gait ataxia Arrhythmia Pectus excavatum Absent speech Intellectual disability, mild Cerebellar atrophy Strabismus Mandibular prognathia Small intestinal dysmotility Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Autism Macrotia Clonus Epileptic encephalopathy Stereotypy Postnatal microcephaly Decreased body weight Open mouth Generalized-onset seizure Neuronal loss in central nervous system Urinary incontinence Deeply set eye Sleep disturbance Thick eyebrow Long face Unsteady gait Poor speech Severe global developmental delay Abnormality of the eye Abnormal pyramidal sign Chorea Neurological speech impairment Abnormality of the thyroid gland Ulcerative colitis Acute hepatic failure Hepatocellular carcinoma Uveitis Thyroiditis Amyloidosis Celiac disease Inflammation of the large intestine Cholangitis Pleural effusion Portal hypertension Cholelithiasis Hypoalbuminemia Pancreatitis Type I diabetes mellitus Hepatic fibrosis Cholestatic liver disease Prolonged prothrombin time Hepatitis Palmar telangiectasia Dilated superficial abdominal veins Recurrent systemic pyogenic infections Neoplasm of the gallbladder Abnormal large intestine physiology Spider hemangioma Polyclonal elevation of IgM Elevated alkaline phosphatase of hepatic origin Abnormal biliary tract morphology Histiocytosis Chronic hepatic failure Vitamin K deficiency Vitamin A deficiency Cholangiocarcinoma Vitamin E deficiency Sclerosing cholangitis Abnormal eosinophil morphology Vitamin D deficiency Cholestasis Ascites Spastic paraplegia Lower limb spasticity Spastic diplegia Failure to thrive in infancy Abnormality of the urinary system CNS hypomyelination Cerebral palsy Increased body weight Muscle stiffness Clumsiness Abnormality of visual evoked potentials Broad-based gait Choreoathetosis Spastic tetraplegia Premature birth Diffuse leukoencephalopathy Tetraplegia Paraplegia Progressive spasticity Head tremor Autoimmunity Diffuse cerebral sclerosis Abnormality of the liver Jaundice Osteopenia Osteoporosis Depressivity Renal insufficiency Reduction of oligodendroglia Congenital laryngeal stridor Arteriovenous malformation Sudanophilic leukodystrophy Head titubation Macrogyria Cerebral dysmyelination Progressive spastic quadriplegia Scanning speech Psychomotor deterioration Rotary nystagmus Multiple mitochondrial DNA deletions Skeletal myopathy Decreased sensory nerve conduction velocity Lichenification Muscle cramps Hypotelorism Cutaneous T-cell lymphoma Abnormal immunoglobulin level Abnormal lymphocyte morphology T-cell lymphoma Abnormality of the pleura Inability to walk Gangrene Irregular hyperpigmentation Erythroderma Ectropion Neoplasm of the skin Thickened skin Abnormality of the face Sensory neuropathy Hypogonadism Lymphadenopathy Abnormality of color vision Hyperhidrosis High palate Abnormality of the nervous system Abnormality of macular pigmentation Abnormal cranial nerve morphology Iris hypopigmentation Bulbar palsy Diabetes insipidus Aggressive behavior Sleep apnea Progressive hearing impairment Abnormal autonomic nervous system physiology Gynecomastia Hallucinations Optic disc pallor Confusion Palmoplantar keratoderma Dry skin Hyperkeratosis Lower limb muscle weakness Scapular winging Knee flexion contracture Elbow flexion contracture Lumbar hyperlordosis Waddling gait Axonal loss Hodgkin lymphoma Dysphonia Vocal cord paralysis Constrictive median neuropathy Low back pain Pes planus Abnormal myelination Brachial plexus neuropathy Myelin tomacula Laryngomalacia Hammertoe Hypotrichosis Back pain Nail dystrophy Tetraparesis Skin rash Hoarse voice Alopecia Immunodeficiency Edema Abnormality of the voice Bilateral talipes equinovarus Abnormal facial shape Neoplasm Nonprogressive muscular atrophy Proximal lower limb amyotrophy Areflexia of lower limbs Motor axonal neuropathy Hip contracture Respiratory failure Kyphoscoliosis Macrovesicular hepatic steatosis External ophthalmoplegia Bilateral ptosis Abnormality of the hand Polycystic ovaries Easy fatigability Ragged-red muscle fibers Leukoencephalopathy Hypogonadotrophic hypogonadism Malnutrition Hypergonadotropic hypogonadism Sensorimotor neuropathy Chronic diarrhea Abdominal distention Distal sensory impairment Myocardial infarction Nausea Ophthalmoparesis Scleroderma Malabsorption Segmental peripheral demyelination/remyelination Cytochrome C oxidase-negative muscle fibers Gastroparesis Intermittent diarrhea Hyperalaninemia Intestinal pseudo-obstruction Decreased number of large peripheral myelinated nerve fibers Abnormality of the mitochondrion Gastrointestinal dysmotility Poor appetite Demyelinating peripheral neuropathy Absent Achilles reflex Abnormality of the gastrointestinal tract Increased CSF protein Abnormality of the vasculature Progressive external ophthalmoplegia Mitochondrial myopathy Lactic acidosis Abnormality of the cerebral white matter Rigidity Congenital hip dislocation Mildly elevated creatine phosphokinase Multiple joint contractures Increased variability in muscle fiber diameter Limb-girdle muscular dystrophy Limb-girdle muscle weakness Torticollis Lissencephaly Pachygyria Ankle contracture Growth hormone deficiency Round face Hip dislocation Camptodactyly of finger Axial muscle weakness Protruding ear Joint laxity Neck muscle weakness Progressive proximal muscle weakness Severe muscular hypotonia Increased laxity of ankles Acidosis Poor head control Constipation Diarrhea Vomiting Anemia Sensorineural hearing impairment Increased laxity of fingers Recurrent lower respiratory tract infections Hyperextensibility at wrists Impaired mastication Nocturnal hypoventilation Muscle fiber necrosis Type 1 muscle fiber predominance Follicular hyperkeratosis Proximal amyotrophy Adenocarcinoma of the large intestine



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