Muscle weakness, and Tall stature

Diseases related with Muscle weakness and Tall stature

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


Top matches:

Low match RIPPLING MUSCLE DISEASE


Rippling muscle disease is a rare, genetic, neuromuscular disorder characterized by muscle hyperirritability triggered by stretch, percussion or movement. Patients present wave-like, electrically-silent muscle contractions (rippling), muscle mounding, painful muscle stiffness and muscle hypertrophy, usually with elevated serum creatine kinase.

RIPPLING MUSCLE DISEASE Is also known as muscular dystrophy, limb-girdle, type 1c, formerly|rippling muscle disease|rmd|lgmd1c, formerly

Related symptoms:

  • Muscle weakness
  • Pain
  • Fatigue
  • Talipes equinovarus
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about RIPPLING MUSCLE DISEASE

Low match DISTAL NEBULIN MYOPATHY


Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.

DISTAL NEBULIN MYOPATHY Is also known as nebulin-related early-onset distal myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DISTAL NEBULIN MYOPATHY

Low match X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS


X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS Is also known as mental retardation, x-linked, syndromic 29|mental retardation, x-linked 94|mrx94|mrxs29

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY DUE TO GRIA3 MUTATIONS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE


Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with adrenocorticotrophin hormone (ACTH) independent Cushing syndrome (see this term) and is characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules (less than 1 cm in diameter).

PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE Is also known as ppnad|primary pigmented nodular adrenal dysplasia|cushing syndrome, adrenal, due to ppnad3

Related symptoms:

  • Short stature
  • Muscle weakness
  • Hypertension
  • Skeletal muscle atrophy
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2R


Charcot-Marie-Tooth disease type 2R is a rare subtype of axonal hereditary motor and sensory neuropathy characterized by early-onset axial hypotonia, generalized muscle weakness, absent deep tendon reflexes and decreased muscle mass. Electromyography reveals decreased motor nerve conduction velocities with markedly reduced sensory and motor amplitudes.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2R Is also known as charcot-marie-tooth disease, axonal, autosomal recessive, type 2r|cmt2r|charcot-marie-tooth neuropathy, type 2r

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Motor delay
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2R

Low match HYPEROSTOSIS CRANIALIS INTERNA


Hyperostosis cranialis interna is a bone disorder characterized by endosteal hyperostosis and osteosclerosis of the calvaria and the skull base. The progressive bone overgrowth causes entrapment and dysfunction of cranial nerves I, II, V, VII, and VIII (Waterval et al., 2010).

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Optic atrophy
  • Reduced visual acuity
  • Proptosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HYPEROSTOSIS CRANIALIS INTERNA

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H


Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H Is also known as sarcotubular myopathy|lgmd2h|muscular dystrophy, hutterite type|limb-girdle muscular dystrophy due to trim32 deficiency|muscular dystrophy, limb-girdle, type 2h

Related symptoms:

  • Muscle weakness
  • Pain
  • Gait disturbance
  • Myopathy
  • Areflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H

Low match HYPEROSTOSIS CORTICALIS GENERALISATA


Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.

HYPEROSTOSIS CORTICALIS GENERALISATA Is also known as hyperphosphatasemia tarda|hyperostosis corticalis generalisata|van buchem disease|endosteal hyperostosis, autosomal recessive

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Optic atrophy
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPEROSTOSIS CORTICALIS GENERALISATA

Low match SCLEROSTEOSIS 2; SOST2


Sclerosteosis is a severe sclerosing bone dysplasia characterized by progressive skeletal overgrowth. Syndactyly is a variable manifestation. The disorder is rare and the majority of affected individuals have been reported in the Afrikaner population of South Africa (summary by Brunkow et al., 2001).For a discussion of genetic heterogeneity of sclerosteosis, see SOST1 (OMIM ).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Macrocephaly
  • Gait disturbance
  • Frontal bossing


SOURCES: OMIM MENDELIAN

More info about SCLEROSTEOSIS 2; SOST2

Low match DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME


A rare, genetic, mitochondrial oxidative phosphorylation disorder characterized by either late-onset myopathy with progressive external ophthalmoplegia and muscular weakness (predominantly limb-girdle) or early-onset myopathy presenting with decreased fetal movements, congenital ptosis, progressive external ophthalmoplegia, hypotonia and, variably, joint contractures. Reduced content and multiple deletions of mitochondrial DNA is observed in muscle biopsy.

DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME Is also known as mtdna deletion syndrome with limb-girdle weakness|progressive external ophthalmoplegia, autosomal dominant 6|mtdna deletion syndrome with progressive myopathy|mitochondrial dna deletion syndrome with limb-girdle weakness|mitochondrial dna deletion syndrom

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNA2-RELATED MITOCHONDRIAL DNA DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Tall stature

Symptoms // Phenotype % cases
Facial palsy Uncommon - Between 30% and 50% cases
Overgrowth Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Slender build Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Pain Gowers sign Hyperostosis Myalgia Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases


Generalized hypotonia Optic atrophy Hyporeflexia Areflexia Macrocephaly Short stature Proximal muscle weakness Muscular dystrophy Talipes equinovarus Exercise-induced myalgia Sensorineural hearing impairment Calf muscle hypertrophy Muscle cramps Fatigue Increased bone mineral density Mandibular prognathia Scapular winging Skeletal muscle atrophy EMG abnormality Headache Pelvic girdle muscle weakness Proximal muscle weakness in lower limbs Calf muscle pseudohypertrophy Shoulder girdle muscle atrophy Pelvic girdle muscle atrophy Quadriceps muscle weakness Blindness Shoulder girdle muscle weakness Neck flexor weakness Obstructive sleep apnea Progressive proximal muscle weakness Waddling gait Calvarial hyperostosis Mastoiditis Hyperostosis cranialis interna Osteosclerosis of the base of the skull Hypomimic face Paresthesia Centrally nucleated skeletal muscle fibers EMG: myopathic abnormalities Elevated alkaline phosphatase Congenital muscular dystrophy Keratitis Mask-like facies Increased variability in muscle fiber diameter Cranial nerve paralysis Thickened cortex of long bones Abnormality of the clavicle Ophthalmoplegia Sclerotic vertebral endplates Ptosis Dyspnea Difficulty walking Apnea Hyperlordosis Exercise intolerance Short finger External ophthalmoplegia Sleep apnea Generalized amyotrophy Exertional dyspnea Progressive external ophthalmoplegia Limb-girdle muscle weakness Cutaneous finger syndactyly Increased intracranial pressure Abnormal cortical bone morphology Ocular pain Generalized osteosclerosis Diaphyseal thickening Cranial hyperostosis Inertia Optic atrophy from cranial nerve compression Hypertelorism Abnormality of the skeletal system Tetraparesis Syndactyly Midface retrusion Gait ataxia Facial asymmetry Dental malocclusion Nail dysplasia Small nail Frontal bossing Tracheomalacia Arnold-Chiari type I malformation Global developmental delay Short upper lip Facial hypotonia Prominent supraorbital ridges Narrow palate Short philtrum Distal muscle weakness Autistic behavior Aggressive behavior Deeply set eye Autism Brachycephaly Myoclonus Behavioral abnormality Intellectual disability, severe Seizures Hypertension Toe walking Cardiomyopathy Hypertrophic cardiomyopathy Irritability Muscle stiffness Limb-girdle muscular dystrophy Myotonia Skeletal muscle hypertrophy Intellectual disability Fatigable weakness Exercise-induced muscle cramps Exercise-induced muscle stiffness Muscle mounding Muscle hyperirritability Percussion-induced rapid rolling muscle contractions Retrocerebellar cyst Osteoporosis Vestibular dysfunction Inability to walk Epiphora Tinnitus Proptosis Reduced visual acuity Abnormal cranial nerve morphology Vocal cord paralysis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Decreased muscle mass Decreased motor nerve conduction velocity Hammertoe Knee flexion contracture Broad-based gait Polyneuropathy Peripheral axonal neuropathy Hypogonadism Pigmented micronodular adrenocortical disease Diabetes mellitus Thin skin Increased susceptibility to fractures Striae distensae Increased circulating cortisol level Adrenal hyperplasia Flexion contracture Paralysis Motor delay Peripheral neuropathy Respiratory insufficiency Respiratory distress Pes cavus Muscular hypotonia of the trunk Tip-toe gait



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Otitis media, related diseases and genetic alterations Myopia and Anorexia, related diseases and genetic alterations Lymphoma and Sepsis, related diseases and genetic alterations Low-set ears and Schizophrenia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more