Autoimmunity, and Generalized muscle weakness

Diseases related with Autoimmunity and Generalized muscle weakness

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

Top matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Myasthenia gravis is a disease that causes weakness in the muscles under your control. It happens because of a problem in communication between your nerves and muscles. Myasthenia gravis is an autoimmune disease. Your body's own immune system makes antibodies that block or change some of the nerve signals to your muscles. This makes your muscles weaker. Common symptoms are trouble with eye and eyelid movement, facial expression and swallowing. But it can also affect other muscles. The weakness gets worse with activity, and better with rest. There are medicines to help improve nerve-to-muscle messages and make muscles stronger. With treatment, the muscle weakness often gets much better. Other drugs keep your body from making so many abnormal antibodies. There are also treatments which filter abnormal antibodies from the blood or add healthy antibodies from donated blood. Sometimes surgery to take out the thymus gland helps. For some people, myasthenia gravis can go into remission and they do not need medicines. The remission can be temporary or permanent. If you have myasthenia gravis, it is important to follow your treatment plan. If you do, you can expect your life to be normal or close to it. NIH: National Institute of Neurological Disorders and Stroke

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about PRESYNAPTIC CONGENITAL MYASTHENIC SYNDROMES

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY Is also known as xmea|vacuolar myopathy

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY

Other less relevant matches:

Recurrent myoglobinuria is characterized by recurrent attacks of rhabdomyolysis associated with muscle pain and weakness and followed by excretion of myoglobin in the urine. Renal failure may occasionally occur. Onset is usually in early childhood under the age of 5 years. Unlike the exercise-induced rhabdomyolyses such as McArdle syndrome (OMIM ), carnitine palmitoyltransferase deficiency (see {255110}), and the Creteil variety of phosphoglycerate kinase deficiency (OMIM ), the attacks in recurrent myoglobinuria no relation to exercise, but are triggered by intercurrent illnesses, commonly upper respiratory tract infections. (Ramesh and Gardner-Medwin, 1992).See {160010} for discussion of a possible autosomal dominant form of myglobinuria.Severe rhabdomyolysis is a major clinical feature of anesthetic-induced malignant hyperthermia (OMIM ), an autosomal dominant disorder.

MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE Is also known as rhabdomyolysis, acute recurrent|myoglobinuria, familial paroxysmal paralytic

Related symptoms:

  • Muscle weakness
  • Pain
  • Fever
  • Renal insufficiency
  • Areflexia


SOURCES: OMIM MESH MENDELIAN

More info about MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE

OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD Is also known as muscular dystrophy, oculopharyngeal

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about OCULOPHARYNGEAL MUSCULAR DYSTROPHY; OPMD

Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.

DISTAL MYOTILINOPATHY Is also known as muscular dystrophy, limb-girdle, type 1, formerly|lgmd1, formerly|lgmd1a, formerly|myopathy, myofibrillar, myotilin-related|muscular dystrophy, limb-girdle, type 1a, formerly|myotilinopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DISTAL MYOTILINOPATHY

Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D Is also known as lgmd1d|lgmd1e|muscular dystrophy, limb-girdle, type 1d, formerly|muscular dystrophy, limb-girdle, type 1e|lgmd1d, formerly

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Dysarthria
  • Dysphagia
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1D

Congenital myasthenic syndrome-19 is an autosomal recessive disorder resulting from a defect in the neuromuscular junction, causing generalized muscle weakness, exercise intolerance, and respiratory insufficiency. Patients present with hypotonia, feeding difficulties, and respiratory problems soon after birth, but the severity of the weakness and disease course is variable (summary by Logan et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Micrognathia
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 19; CMS19

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related|mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Top 5 symptoms//phenotypes associated to Autoimmunity and Generalized muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Autoimmunity and Generalized muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Dysarthria Ophthalmoplegia Areflexia Dyspnea Seizures Generalized hypotonia Ptosis Bulbar palsy Facial palsy Distal muscle weakness Global developmental delay Muscular dystrophy Pes cavus Hyporeflexia Limb muscle weakness Low-set ears Ataxia Flexion contracture Myositis Autophagic vacuoles Rigidity Feeding difficulties

Rare Symptoms - Less than 30% cases

Dysphonia Cardiomyopathy Respiratory insufficiency Waddling gait Sudden episodic apnea Apneic episodes precipitated by illness, fatigue, stress Acetylcholine receptor antibody positivity Distal amyotrophy Pectus carinatum Gastroesophageal reflux Arthrogryposis multiplex congenita Myalgia Joint laxity Polyhydramnios High palate Motor delay Respiratory failure Hearing impairment Peripheral neuropathy Lower limb muscle weakness Cyanosis Poor head control Ophthalmoparesis Mitochondrial myopathy Diplopia Rimmed vacuoles Easy fatigability Myofibrillar myopathy Poor suck External ophthalmoplegia Neck muscle weakness Spinal rigidity Staring gaze Weak cry Fatigable weakness Centrally nucleated skeletal muscle fibers Fever Limb-girdle muscular dystrophy Pneumonia Muscle stiffness Achilles tendon contracture Hyporeflexia of lower limbs Polyneuropathy Progressive distal muscle weakness Paroxysmal dyskinesia Paroxysmal choreoathetosis Choreoathetosis Myoclonus Joint stiffness Neurological speech impairment Spastic paraplegia Abnormality of movement Paraplegia Dyskinesia Chorea Migraine Involuntary movements Kernicterus Torticollis Hyperkinesis Encephalitis Trismus Episodic ataxia Myokymia Facial grimacing Foot dorsiflexor weakness Paroxysmal dystonia Muscle fiber cytoplasmatic inclusion bodies Tapered finger Gowers sign Decreased liver function Encephalopathy Constipation Abdominal pain Hypoglycemia Abnormality of the cerebral white matter Malabsorption Unsteady gait Abdominal distention Hepatic fibrosis Leukoencephalopathy Talipes equinovarus Ragged-red muscle fibers Cachexia Hypokalemia Bilateral talipes equinovarus Malnutrition Celiac disease Progressive external ophthalmoplegia Hypomagnesemia Slender build Gastrointestinal dysmotility Ventriculomegaly Growth delay Increased variability in muscle fiber diameter Abnormality of muscle fibers Calf muscle hypertrophy Difficulty climbing stairs Spinal canal stenosis Progressive proximal muscle weakness Bulbar signs Shoulder girdle muscle weakness Dystonia Muscle fiber splitting Pelvic girdle muscle weakness Loss of ability to walk Fatty replacement of skeletal muscle Short stature Percussion myotonia Weakness of the intrinsic hand muscles Hyposegmentation of neutrophil nuclei Skeletal muscle fibrosis Micrognathia Retrognathia Abnormal lung morphology Exercise intolerance Recurrent lower respiratory tract infections Chronic lung disease Headache Acute rhabdomyolysis Fatigue Recurrent respiratory infections Muscle specific kinase antibody positivity Single fiber EMG abnormality Intellectual disability Nystagmus Sensorineural hearing impairment Paralysis Respiratory tract infection Apnea Decreased miniature endplate potentials Kyphoscoliosis Difficulty walking Long face Esotropia Decreased fetal movement Congenital hip dislocation Microretrognathia EMG: myopathic abnormalities Generalized hypotonia due to defect at the neuromuscular junction Hyperacusis Stridor Abnormality of the immune system Hepatitis Psychosis Aspiration Respiratory insufficiency due to muscle weakness Systemic lupus erythematosus Rheumatoid arthritis Hemolytic anemia Glycosuria Hyperthyroidism Pure red cell aplasia Primary adrenal insufficiency Hashimoto thyroiditis Acrocyanosis Raynaud phenomenon Paresthesia Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Nasal speech Toe walking Spasticity Skeletal muscle atrophy Recurrent upper respiratory tract infections Hyperkalemia Rhabdomyolysis Acute kidney injury Myoglobinuria Malignant hyperthermia Dark urine Recurrent myoglobinuria Gait disturbance Renal insufficiency Strabismus Failure to thrive Retinal degeneration Pigmentary retinopathy Progressive muscle weakness Bilateral ptosis Mask-like facies Progressive ptosis Inability to walk Pain Central hypotonia EEG with polyspike wave complexes Obstructive sleep apnea Limb-girdle muscle weakness Distal lower limb muscle weakness Motor polyneuropathy Muscle fiber atrophy Respiratory arrest Spinal deformities Central sleep apnea Nasal regurgitation Respiratory distress Choking episodes Narrow jaw Intermittent episodes of respiratory insufficiency due to muscle weakness Frontalis muscle weakness Episodic respiratory distress EMG: impaired neuromuscular transmission Neonatal hypotonia Hypertrophic cardiomyopathy Sensory ataxic neuropathy


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