Muscle weakness, and Pneumonia

Diseases related with Muscle weakness and Pneumonia

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

Top matches:

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

Related symptoms:

  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Areflexia
  • Pneumonia


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3 Is also known as agammaglobulinemia, autosomal recessive, due to cd79a defect

Related symptoms:

  • Failure to thrive
  • Muscle weakness
  • Diarrhea
  • Respiratory tract infection
  • Neutropenia


SOURCES: OMIM MENDELIAN

More info about AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3

Other less relevant matches:

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

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

Familial acute necrotizing encephalopathy or ADANE is a potentially fatal neurological disease characterised by neuropathological lesions principally involving the brainstem, thalamus and putamen.

FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY Is also known as adane|recurrent acute necrotizing encephalopathy|ane|encephalopathy, acute necrotizing, susceptibility to

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ACUTE NECROTIZING ENCEPHALOPATHY

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated.

EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME Is also known as autosomal recessive spastic ataxia type 5|afg3l2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome|spax5

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Spasticity
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET SPASTIC ATAXIA-MYOCLONIC EPILEPSY-NEUROPATHY SYNDROME

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

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

Symptoms // Phenotype % cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Areflexia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Distal muscle weakness Respiratory insufficiency Fasciculations Peripheral neuropathy Degeneration of anterior horn cells Seizures Gait disturbance Dysarthria Polyneuropathy Elevated serum creatine phosphokinase Myopathy Cardiomyopathy Spinal muscular atrophy

Rare Symptoms - Less than 30% cases

Tetraplegia Peripheral axonal neuropathy Pes cavus Gliosis Distal amyotrophy Lower limb muscle weakness EEG abnormality Axonal degeneration Tongue fasciculations Flexion contracture Proximal amyotrophy Myoclonus Ventricular septal defect Recurrent respiratory infections Generalized myoclonic seizures Scoliosis Myofibrillar myopathy Babinski sign Global developmental delay Tremor Progressive muscle weakness Neuronal loss in central nervous system Muscle cramps Diarrhea Respiratory failure Respiratory tract infection Autophagic vacuoles Spasticity Generalized muscle weakness Ataxia Recurrent pneumonia Amyotrophic lateral sclerosis Apraxia Spastic gait Dysmetria Sensorimotor neuropathy Generalized tonic-clonic seizures Spastic paraparesis Encephalitis Mental deterioration Foot dorsiflexor weakness Oculomotor apraxia Cerebellar hypoplasia Severe vision loss Acute encephalopathy Polyneuritis Necrotizing encephalopathy Acute necrotizing encephalopathy Abnormal muscle tone Ptosis Cognitive impairment Cerebellar atrophy Increased CSF protein Abducens palsy Abnormal posturing Dystonia Intellectual disability, mild Cerebral edema Demyelinating peripheral neuropathy Dysdiadochokinesis Decreased fetal movement Spastic dysarthria Bilateral sensorineural hearing impairment Difficulty walking Facial palsy Hyperlordosis Neurological speech impairment Unsteady gait Falls Generalized-onset seizure Frequent falls Hyperreflexia EMG abnormality Absence seizures Respiratory insufficiency due to muscle weakness Gowers sign Oral-pharyngeal dysphagia Loss of consciousness Generalized amyotrophy Atonic seizures Dementia Sensorineural hearing impairment Spastic ataxia Umbilical hernia Increased intramyocellular lipid droplets Abnormal mitochondria in muscle tissue Abnormality of the skeletal system Respiratory distress Atrial septal defect Hernia Abnormal heart morphology Joint laxity Hearing impairment Muscular hypotonia of the trunk Paralysis Abnormal cardiac septum morphology Spastic tetraplegia Tetraparesis EMG: neuropathic changes Decreased number of large peripheral myelinated nerve fibers Proximal muscle weakness in lower limbs Hallucinations Limb muscle weakness Coma Hand tremor Myotonia Sensory axonal neuropathy Mildly elevated creatine phosphokinase Bulbar palsy Decreased number of peripheral myelinated nerve fibers Abnormality of lipid metabolism Bulbar signs Peripheral demyelination Areflexia of lower limbs Atrophy of the spinal cord Ventriculomegaly Edema Dilatation Abnormality of metabolism/homeostasis Dyspnea Hyperlipidemia Sensory impairment Ascites Otitis media Neonatal hypotonia Hypertrophic cardiomyopathy Postural tremor Morphological abnormality of the pyramidal tract Failure to thrive Neutropenia Decreased antibody level in blood Recurrent otitis media Sensory neuropathy Chronic diarrhea Recurrent bacterial infections Bronchitis Agammaglobulinemia Recurrent bronchitis Diabetes mellitus Distal sensory impairment Inability to walk Syncope Cough Muscle fiber cytoplasmatic inclusion bodies Muscle stiffness Limb-girdle muscular dystrophy Centrally nucleated skeletal muscle fibers Achilles tendon contracture Hyporeflexia of lower limbs Progressive distal muscle weakness Intellectual disability Myalgia Visual impairment Fever Vomiting Hypertonia Encephalopathy Rigidity Pallor Muscular dystrophy Hyporeflexia Cardiomegaly Endocardial fibroelastosis Eosinophilia Atrioventricular block Heart murmur Myocardial fibrosis Restrictive cardiomyopathy Abnormal myocardium morphology Pulmonary edema Skeletal myopathy Abnormal mitochondrial number Abnormality of the mitochondrion Abnormal left ventricle morphology Abnormality of cardiovascular system physiology Histiocytoid cardiomyopathy Abnormal ventricular filling Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Progressive distal muscular atrophy


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