Skeletal muscle atrophy, and Respiratory failure

Diseases related with Skeletal muscle atrophy and Respiratory failure

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


Top matches:

Medium match AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14


Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP ) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010).See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD ), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Myopathy
  • Dementia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14

Medium match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A


NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A Is also known as dhmn2a|neuropathy, distal hereditary motor, type iia|hmn iia|spinal muscular atrophy, distal, adult, autosomal dominant, iia|charcot-marie-tooth disease, spinal, iia

Related symptoms:

  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Hyporeflexia
  • Respiratory failure
  • Paralysis


SOURCES: OMIM MESH MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA; HMN2A

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Other less relevant matches:

Medium match GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY


Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance.

GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY Is also known as glycogen storage disease type 5|myophosphorylase deficiency|glycogen storage disease type v|muscle glycogen phosphorylase deficiency|gsd due to muscle glycogen phosphorylase deficiency|mcardle disease|gsd type v|glycogenosis type 5|glycogenosis type v|gsd

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO MUSCLE GLYCOGEN PHOSPHORYLASE DEFICIENCY

Medium match AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 8; ALS8

Medium match TIBIAL MUSCULAR DYSTROPHY


Tibial muscular dystrophy (TMD) is a distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life.

TIBIAL MUSCULAR DYSTROPHY Is also known as distal myopathy, udd type|tardive tibial muscular dystrophy|finnish tibial muscular dystrophy|tmd|udd myopathy|distal titinopathy

Related symptoms:

  • Gait disturbance
  • Cardiomyopathy
  • Myopathy
  • Respiratory failure
  • Difficulty walking


SOURCES: ORPHANET OMIM MENDELIAN

More info about TIBIAL MUSCULAR DYSTROPHY

Medium match AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17


ALS17 is an adult-onset progressive neurodegenerative disorder with predominantly lower motor neuron involvement, manifest as muscle weakness and wasting of the upper and lower limbs, bulbar signs, and respiratory insufficiency (summary by Cox et al., 2010).

AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17 Is also known as amyotrophic lateral sclerosis, chmp2b-related

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia
  • Respiratory insufficiency


SOURCES: MESH OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 17; ALS17

Medium match NEMALINE MYOPATHY 10; NEM10


Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 10; NEM10

Medium match PRIMARY CD59 DEFICIENCY


Primary CD59 deficiency is a rare, genetic, hematologic and neurologic disease characterized by chronic, Coombs-negative hemolysis associated with early-onset, relapsing, immune-mediated, inflammatory, axonal or demyelinating, sensory-motor, peripheral polyneuropathy and isolated or recurrent cerebrovascular events (in anterior or posterior circulation).

PRIMARY CD59 DEFICIENCY Is also known as cd59 deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Anemia
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PRIMARY CD59 DEFICIENCY

Medium match PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7


Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor
  • Babinski sign


SOURCES: OMIM MESH MENDELIAN

More info about PARKINSON DISEASE 7, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK7

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Respiratory failure

Symptoms // Phenotype % cases
Amyotrophic lateral sclerosis Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Fasciculations Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Muscle cramps Limb muscle weakness Paralysis Dysarthria Frontotemporal dementia Respiratory insufficiency Pallor Dementia Areflexia

Rare Symptoms - Less than 30% cases


Postural tremor Progressive muscle weakness Generalized hypotonia Flexion contracture Cognitive impairment Lower limb muscle weakness Respiratory insufficiency due to muscle weakness Babinski sign Gait disturbance Neuronal loss in central nervous system Neurodegeneration Parkinsonism Dysphagia Premature birth Tongue fasciculations Tongue atrophy Motor neuron atrophy Brisk reflexes Feeding difficulties Polyhydramnios Spastic dysarthria Facial palsy Abnormal lower motor neuron morphology Arthrogryposis multiplex congenita Ophthalmoplegia Generalized muscle weakness Bulbar signs Peripheral demyelination Decreased fetal movement Paroxysmal nocturnal hemoglobinuria Psychotic episodes Blepharospasm Resting tremor Bradykinesia Urinary incontinence Aggressive behavior Anxiety Rigidity Tremor Hyperreflexia Hemoglobinuria Severe muscular hypotonia Hemolytic-uremic syndrome Increased CSF protein Quadriceps muscle weakness Polyneuropathy Hematuria Hemolytic anemia Anemia Increased connective tissue Nemaline bodies Bulbar palsy Weakness of long finger extensor muscles EMG: myopathic abnormalities Ankle weakness Fatigue Myoglobinuria Acute kidney injury Rhabdomyolysis Exercise intolerance Muscle stiffness Abnormality of the cardiovascular system Myalgia Elevated serum creatine phosphokinase Renal insufficiency Pain Dark urine Paresis of extensor muscles of the big toe Hyporeflexia of lower limbs Upper motor neuron dysfunction Areflexia of lower limbs Distal lower limb muscle weakness EMG: neuropathic changes Spinal muscular atrophy Peripheral neuropathy Proximal amyotrophy Exercise-induced myalgia Exercise-induced muscle cramps Distal upper limb muscle weakness Limb-girdle muscular dystrophy Transient myeloproliferative syndrome Increased muscle lipid content Peroneal muscle atrophy Proximal muscle weakness in lower limbs Centrally nucleated skeletal muscle fibers Rimmed vacuoles Mildly elevated creatine phosphokinase Increased variability in muscle fiber diameter Steppage gait Foot dorsiflexor weakness Acute rhabdomyolysis Clumsiness Muscular dystrophy Difficulty walking Cardiomyopathy Morphological abnormality of the pyramidal tract Distal muscle weakness Proximal muscle weakness Pneumonia Exercise-induced rhabdomyolysis Bulimia



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